Waardenburg syndrome type 2C

description: A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23.


glycine N-methyltransferase deficiency

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases.


inflammatory bowel disease 8

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 16p.


inflammatory bowel disease 6

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13.


inflammatory bowel disease 4

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12.


dilated cardiomyopathy 1L

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene.


name: spongiform encephalopathy with neuropsychiatric features


lymphangioleiomyomatosis

description: A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.


Kufor-Rakeb syndrome

description: Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.


name: autosomal dominant nonsyndromic hearing loss 36

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene.


split hand-foot malformation 5

description: Split-hand/foot malformation mapped to chromosome 2q31.


van der Woude syndrome 2

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene.


name: partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


Seckel syndrome 2

description: Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.


acute hemorrhagic leukoencephalitis

description: Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL.


hyperinsulinism-hyperammonemia syndrome

description: Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.


primary ciliary dyskinesia 2

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.


gastrointestinal stromal tumor

description: Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.


spermatogenic failure 3

description: Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene.


name: distal myopathy with anterior tibial onset


name: intellectual disability-obesity-prognathism-eye and skin anomalies syndrome


hemifacial myohyperplasia

description: Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.


encephalopathy due to GLUT1 deficiency

description: Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.


Crigler-Najjar syndrome type 2

description: Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.


benign essential blepharospasm

description: Involuntary twitching of the eyelid.


fumaric aciduria

description: Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.


glucose-galactose malabsorption

description: Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.


description: Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.


name: Cardioneuromyopathy with hyaline masses and nemaline rods


hyper-IgM syndrome type 3

description: A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.


bilateral frontoparietal polymicrogyria

description: A descriptive term reflecting increased gyral folding in the frontoparietal regions as determined by magnetic resonance imaging. It has subsequently been shown to represent a cobblestone malformation on histopathology. BFPP typically presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non-progressive cerebellar ataxia, deconjugate gaze, and/or strabismus.


pancreatic cancer, susceptibility to, 1

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene.


Carney-Stratakis syndrome

description: Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.


name: Hirschsprung disease, susceptibility to, 6


name: Hirschsprung disease, susceptibility to, 7


Alzheimer disease 4

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.


name: primary intraosseous venous malformation

description: Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting.


name: duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery


name: symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


Usher syndrome type 1G

description: Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene.


oculocutaneous albinism type 1B

description: Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


nephronophthisis 4

description: Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 2


name: familial hyperreninemic hypoaldosteronism type 2


Senior-Loken syndrome 4

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene.


Hurler syndrome

description: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


Hurler-Scheie syndrome

description: Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


Scheie syndrome

description: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


name: autosomal dominant nonsyndromic hearing loss 21

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3.


name: autosomal recessive nonsyndromic hearing loss 22

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene.


autosomal dominant Parkinson disease 8

description: Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.


multiple epiphyseal dysplasia type 5

description: Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.


name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


name: autosomal recessive nonsyndromic hearing loss 31

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene.


name: myasthenia gravis with thymus hyperplasia


name: neuronopathy, distal hereditary motor, autosomal recessive 3

description: A rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction.


name: B4GALT1-congenital disorder of glycosylation

description: B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.


anauxetic dysplasia

description: A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation.


name: autosomal recessive nonsyndromic hearing loss 30

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene.


name: nasopharyngeal carcinoma, susceptibility to, 1

description: Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene.


CINCA syndrome

description: Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.


Alzheimer disease 8

description: An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.


name: multiple epiphyseal dysplasia, Al-Gazali type

description: Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism.


name: laryngeal atresia, encephalocele, and limb deformities


spinocerebellar ataxia type 17

description: A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.


angioid streaks

description: Small breaks in the elastin-filled tissue of the retina.


name: ALG12-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).


Moyamoya disease 2

description: Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene.


hereditary spastic paraplegia 19

description: Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy.


allergic rhinitis

description: Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.


name: autosomal recessive limb-girdle muscular dystrophy type 2I

description: A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.


name: cloverleaf skull-multiple congenital anomalies syndrome

description: This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.


familial meningioma

description: A meningioma that is transmitted from the parents to an offspring.


Amish lethal microcephaly

description: Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.


thyroid dyshormonogenesis 6

description: Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene.


anonychia-microcephaly syndrome

description: Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth.


name: epilepsy, partial, with pericentral spikes


name: infantile-onset ascending hereditary spastic paralysis

description: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.


name: hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


name: autosomal recessive nonsyndromic hearing loss 33

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1.


name: spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

description: Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.


hereditary spastic paraplegia 7

description: Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.


name: autoimmune lymphoproliferative syndrome type 2B

description: Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.


name: asthma-related traits, susceptibility to, 1

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene.


osteofibrous dysplasia

description: A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.


name: systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1


cataract 27

description: A cataract that has material basis in mutation in the region 2p12.


name: horizontal gaze palsy with progressive scoliosis

description: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.


name: autosomal recessive cerebellar ataxia-saccadic intrusion syndrome

description: Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances.


Duane-radial ray syndrome

description: A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.


Smith-McCort dysplasia 1

description: Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.


name: hypertension, essential, susceptibility to, 3


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


name: coronary heart disease, susceptibility to, 1

description: Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene.


name: isolated focal cortical dysplasia type II

description: A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


spinocerebellar ataxia type 19/22

description: Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.


name: scoliosis, isolated, susceptibility to, 2


Meckel syndrome, type 3

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene.


Bartter disease type 3

description: Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.


description: Developmental malformations-deafness-dystonia syndrome is characterized by the association of midline malformations, sensory hearing loss, and a delayed-onset generalized dystonia syndrome.


name: streptococcus, group A, severity of infection by


glucocorticoid deficiency 2

description: Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.


patent ductus arteriosus

description: A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.


name: intellectual disability, autosomal recessive 2

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene.


coenzyme Q10 deficiency, primary, 1

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.


lissencephaly due to LIS1 mutation

description: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


name: arrhythmogenic right ventricular dysplasia 8

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene.


name: autosomal dominant nonsyndromic hearing loss 44

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene.


spinocerebellar ataxia type 21

description: Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.


spinocerebellar ataxia type 18

description: Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia.


name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

description: A syndrome is characterized by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.


name: vitamin K-dependent clotting factors, combined deficiency of, type 2

description: Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.


Bothnia retinal dystrophy

description: A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted.


Newfoundland cone-rod dystrophy

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene.


dilated cardiomyopathy 1M

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.


name: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

description: A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.


hypertrophic cardiomyopathy 25

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene.


myoclonic dystonia 15

description: A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11.


name: migraine with or without aura, susceptibility to, 3


name: migraine without aura, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing migraines without aura.


name: headache associated with sexual activity


psoriatic arthritis

description: Joint inflammation associated with psoriasis.


name: migraine with or without aura, susceptibility to, 5


name: migraine with or without aura, susceptibility to, 6


nonsyndromic congenital nail disorder 8

description: Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene.


name: secretory diarrhea, myopathy, and deafness


granular corneal dystrophy type II

description: Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment.


name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome


atrial fibrillation, familial, 3

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene.


name: spastic paraplegia, ataxia, and intellectual disability


breath-holding Spells

description: Episodic apnea, which is more common in young children and usually resolves by age six.


hereditary spastic paraplegia 24

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14.


name: prostate cancer aggressiveness quantitative trait locus on chromosome 19


pontocerebellar hypoplasia type 1A

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.


name: microphthalmia with cyst, bilateral facial clefts, and limb anomalies


name: lethal congenital contracture syndrome 2

description: Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.


name: epidermolysis bullosa simplex superficialis

description: Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters.


annular epidermolytic ichthyosis

description: Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities.


Niemann-Pick disease type B

description: Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea


Griscelli syndrome type 2

description: Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood.


Niemann-Pick disease, type C2

description: Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.


name: neonatal ichthyosis-sclerosing cholangitis syndrome

description: Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.


name: epilepsy, idiopathic generalized, susceptibility to, 11

description: An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene.


autosomal dominant osteopetrosis 1

description: Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.


name: neuronopathy, distal hereditary motor, type 7B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene.


keratosis palmoplantaris striata 3

description: Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene.


name: skin fragility-woolly hair-palmoplantar keratoderma syndrome


name: Curly hair - acral keratoderma - caries syndrome

description: Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.


description: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed.


name: tubulointerstitial nephritis and uveitis syndrome

description: An autoimmune disorder comprising tubulointerstitial nephritis and uveitis.


torsion dystonia 13

description: DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement.


name: cataract, congenital, with mental impairment and dentate gyrus atrophy


immunodeficiency 67

description: An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.


Charcot-Marie-Tooth disease type 2I

description: Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.


Charcot-Marie-Tooth disease type 1D

description: A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.


febrile seizures, familial, 8

description: A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype.


name: epilepsy, idiopathic generalized, susceptibility to, 9

description: Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene.


name: autosomal dominant nonsyndromic hearing loss 52

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32.


Charcot-Marie-Tooth disease type 2E

description: Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.


name: Parkinson disease 11, autosomal dominant, susceptibility to

description: An inherited susceptibility or predisposition to developing late onset Parkinson disease, in which the cause of the disease is a mutation in the GIGYF2 gene.


description: A syndrome is characterized by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described.


name: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


name: Noonan syndrome-like disorder with loose anagen hair

description: Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays.


name: porokeratosis 4, disseminated superficial actinic type


name: Charcot-Marie-Tooth disease axonal type 2H

description: Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.


Charcot-Marie-Tooth disease type 1F

description: A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..


Charcot-Marie-Tooth disease type 2J

description: Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.


seizures, benign familial infantile, 3

description: Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.


congenital bile acid synthesis defect 1

description: Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.


acrocapitofemoral dysplasia

description: Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


name: Charcot-Marie-Tooth disease dominant intermediate D

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.


craniolenticulosutural dysplasia

description: Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.


name: autosomal recessive nonsyndromic hearing loss 37

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene.


Alzheimer disease 3

description: Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.


name: Charcot-Marie-Tooth disease axonal type 2K

description: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.


name: focal segmental glomerulosclerosis 3, susceptibility to

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene.


anxiety

description: Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


name: autoimmune disease, susceptibility to, 1

description: Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene.


name: autosomal dominant nonsyndromic hearing loss 48

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene.


name: nonimmune chronic idiopathic neutropenia of adults


osteoarthritis susceptibility 3

description: Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene.


name: congenital merosin-deficient muscular dystrophy 1A

description: Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.


tufted angioma

description: Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood.


caudal duplication

description: Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents.


chromosome 1p36 deletion syndrome

description: A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.


epilepsy, familial adult myoclonic, 2

description: Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.


hypotrichosis 6

description: Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene.


name: ALG2-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.


dermatofibrosarcoma protuberans

description: Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).


retinitis pigmentosa 30

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene.


name: microphthalmia with brain and digit anomalies

description: Microphthalmia with brain and digit anomalies is characterized by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.


peeling skin syndrome 4

description: Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.


atrial septal defect 2

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene.


name: Spondyloenchondrodysplasia with immune dysregulation


name: Mycobacterium tuberculosis, susceptibility to, 1


name: systemic lupus erythematosus with nephritis, susceptibility to, 1


name: systemic lupus erythematosus with nephritis, susceptibility to, 2


name: systemic lupus erythematosus with nephritis, susceptibility to, 3


Gaucher disease perinatal lethal

description: Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).


diaphanospondylodysostosis

description: Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.


pontocerebellar hypoplasia type 3

description: Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.


name: infantile-onset autosomal recessive nonprogressive cerebellar ataxia


amyotrophic lateral sclerosis type 6

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene.


name: familial acute necrotizing encephalopathy

description: Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterized by neuropathological lesions principally involving the brainstem, thalamus and putamen.


name: melanoma, cutaneous malignant, susceptibility to, 4


name: diabetes mellitus, noninsulin-dependent, 4


retinal macular dystrophy type 2

description: Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.


name: bile and pancreatic ducts, complete absence of


sweet syndrome

description: Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis.


schizophrenia 11

description: A schizophrenia that has material basis in a mutation on chromosome 10q22.3.


name: hereditary sensory and autonomic neuropathy type 1B

description: Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).


endometrial cancer

description: Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity).


Joubert syndrome 2

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene.


name: DPAGT1-congenital disorder of glycosylation

description: DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).


familial temporal lobe epilepsy 2

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3.


name: periventricular heterotopia with microcephaly, autosomal recessive


name: heterotopia, periventricular, associated with chromosome 5P anomalies


name: autosomal recessive limb-girdle muscular dystrophy type 2D

description: Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare.


name: ALG8-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.


name: rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


hyper-IgM syndrome type 5

description: Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene.


ovarian hyperstimulation syndrome

description: A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries.


retinitis pigmentosa 7

description: A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21.


name: paternal uniparental disomy of chromosome 14


description: Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.


8q22.1 microdeletion syndrome

description: The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.


name: adult-onset foveomacular vitelliform dystrophy

description: Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.


name: autoimmune thyroid disease, susceptibility to, 1


name: autoimmune thyroid disease, susceptibility to, 2


name: autoimmune thyroid disease, susceptibility to, 3


name: autoimmune thyroid disease, susceptibility to, 4


synpolydactyly type 2

description: Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


hyper-IgM syndrome type 4

description: A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation.


tropical pancreatitis

description: Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis.


cone-rod dystrophy 13

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.


neutrophil immunodeficiency syndrome

description: A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas.


leishmaniasis

description: Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration).


name: autosomal recessive nonsyndromic hearing loss 38

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27.


hereditary spastic paraplegia 25

description: Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.


name: autosomal dominant nonsyndromic hearing loss 41

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene.


name: cataract - congenital heart disease - neural tube defect syndrome

description: Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.


name: chronic myelogenous leukemia, BCR-ABL1 positive

description: A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.


Hermansky-Pudlak syndrome 2

description: A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.


name: autosomal dominant slowed nerve conduction velocity

description: Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.


specific phobia

description: An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable.


name: mandibulofacial dysostosis with ptosis, autosomal dominant


name: autosomal recessive nonsyndromic hearing loss 40

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1.


name: autosomal recessive nonsyndromic hearing loss 39

description: An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness.


parathyroid gland carcinoma

description: A very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.


name: growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy


name: craniosynostosis with ocular abnormalities and hallucal defects


name: scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities


Lelis syndrome

description: Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.


name: coronary heart disease, susceptibility to, 2


name: coronary heart disease, susceptibility to, 4


name: coronary artery disease, autosomal dominant, 1

description: Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.


name: Charcot-Marie-Tooth disease dominant intermediate C

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.


Weill-Marchesani syndrome 2, dominant

description: A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.


name: Charcot-Marie-Tooth disease recessive intermediate A

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.


name: nystagmus 3, congenital, autosomal dominant


name: capillary malformation-arteriovenous malformation syndrome

description: This syndrome is characterized by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.


name: spondyloepiphyseal dysplasia, Kimberley type

description: Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.


name: chromosome 22q11.2 microduplication syndrome

description: The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.


name: autosomal dominant nonsyndromic hearing loss 49

description: An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23.


retinitis pigmentosa 26

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene.


branchiootic syndrome 3

description: Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.


name: autoimmune disease, susceptibility to, 2


name: autoimmune disease, susceptibility to, 3


name: microcephaly 6, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.


name: autosomal dominant nonsyndromic hearing loss 43

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12.


platelet-type bleeding disorder 10

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.


Braddock syndrome

description: Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.


bradyopsia

description: Bradyopsia is characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia.


name: autosomal dominant limb-girdle muscular dystrophy type 1F

description: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.


description: Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner.


name: systemic lupus erythematosus, susceptibility to, 4


name: intellectual disability, autosomal recessive 3

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene.


name: myocardial infarction, susceptibility to


inflammatory bowel disease 9

description: An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26.


familial adenomatous polyposis 2

description: An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur.


name: Hirschsprung disease, susceptibility to, 8


Reis-Bucklers corneal dystrophy

description: Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment.


corneal dystrophy, lattice type 3A

description: Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically.


name: congenital corneal opacities, cornea guttata, and corectopia


name: alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia


endogenous depression

description: Depression which is considered strictly biological.


name: ALG1-congenital disorder of glycosylation

description: A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).


schizophrenia 12

description: A schizophrenia that has material basis in a mutation on chromosome 1p36.2.


description: Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.


Leber congenital amaurosis 9

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene.


name: myocardial infarction, susceptibility to, 2


name: autosomal recessive nonsyndromic hearing loss 35

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene.


familial sick sinus syndrome

description: Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.


dilated cardiomyopathy 1O

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene.


name: ulnar/fibula ray defect-brachydactyly syndrome

description: Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.


name: choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

description: Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.


name: asthma-related traits, susceptibility to, 2

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene.


name: congenital generalized lipodystrophy type 1

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.


name: familial partial lipodystrophy, Kobberling type

description: Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.


ribose-5-P isomerase deficiency

description: Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy.


name: mandibuloacral dysplasia with type B lipodystrophy


name: midface hypoplasia, obesity, developmental delay, and neonatal hypotonia


amyotrophic lateral sclerosis type 8

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene.


Joubert syndrome 3

description: Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene.


name: neuronopathy, distal hereditary motor, type 2B

description: Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.


15q11q13 microduplication syndrome

description: The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.


name: autosomal dominant nonsyndromic hearing loss 28

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene.


name: aromatic L-amino acid decarboxylase deficiency

description: Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.


primary ciliary dyskinesia 3

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.


name: autosomal dominant nonsyndromic hearing loss 31

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3.


primary ciliary dyskinesia 4

description: A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.


primary ciliary dyskinesia 5

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene.


ichthyosis prematurity syndrome

description: Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.


name: autosomal dominant nonsyndromic hearing loss 47

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21.


name: autosomal recessive nonsyndromic hearing loss 32

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3.


name: hereditary sensory and autonomic neuropathy type 5

description: Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.


name: intellectual disability-brachydactyly-Pierre Robin syndrome

description: Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.


name: Charcot-Marie-Tooth disease axonal type 2L

description: Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.


name: spondylocostal dysostosis 2, autosomal recessive


spinocerebellar ataxia type 20

description: Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.


AICA-ribosiduria

description: AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.


spinocerebellar ataxia type 25

description: Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy.


acquired partial lipodystrophy

description: A lipodystrophy characterized by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs.


granulomatosis with polyangiitis

description: A small-vessel necrotizing vasculitis characterized by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.


name: microcephaly 5, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.


name: neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia


name: spondyloepimetaphyseal dysplasia, matrilin-3 type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.


name: hypertension, essential, susceptibility to, 4


name: growth delay due to insulin-like growth factor type 1 deficiency

description: Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.


hypertrophic cardiomyopathy 8

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene.


hypertrophic cardiomyopathy 10

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 3


name: Ehlers-Danlos syndrome, Beasley-Cohen type


name: scoliosis, isolated, susceptibility to, 3


spinocerebellar ataxia type 8

description: Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.


name: ALG9-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).


name: COG7-congenital disorder of glycosylation

description: COG7-CDG is a congenital disorder of glycosylation characterized by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.


name: pyruvate dehydrogenase phosphatase deficiency

description: Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period.


name: congenital disorder of glycosylation type 1E

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.


name: sudden infant death-dysgenesis of the testes syndrome

description: Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes.


hypomyelinating leukodystrophy 2

description: Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.


name: familial avascular necrosis of femoral head

description: Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


name: autosomal recessive limb-girdle muscular dystrophy type 2J

description: Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset.


name: transposition of the great arteries, dextro-looped

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.


name: leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema


myofibrillar myopathy 2

description: Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene.


name: metaphyseal undermodeling, spondylar dysplasia, and overgrowth


colorectal cancer, susceptibility to, 1

description: Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene.


name: lateral semicircular canal malformation, familial, with external and middle ear abnormalities


name: myoclonic epilepsy, juvenile, susceptibility to, 3


name: restless legs syndrome, susceptibility to, 2


name: carnitine palmitoyl transferase II deficiency, neonatal form

description: The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.


name: Carney complex - trismus - pseudocamptodactyly syndrome

description: Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).


name: muscular dystrophy-dystroglycanopathy type B6

description: A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.


orofacial cleft 6, susceptibility to

description: Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene.


orofacial cleft 5

description: Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene.


name: hereditary cryohydrocytosis with reduced stomatin


Waardenburg syndrome type 2D

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene.


macular degeneration, age-related, 3

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene.


name: familial hemophagocytic lymphohistiocytosis 3

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene.


name: coronary heart disease, susceptibility to, 5

description: Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene.


name: attention deficit-hyperactivity disorder, susceptibility to, 1


name: attention deficit-hyperactivity disorder, susceptibility to, 2


name: attention deficit-hyperactivity disorder, susceptibility to, 3


name: attention deficit-hyperactivity disorder, susceptibility to, 4


myopia 6

description: Any myopia in which the cause of the disease is a mutation in the SCO2 gene.


choanal atresia

description: Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


name: myasthenic syndrome, congenital, 1B, fast-channel

description: A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.


congenital myasthenic syndrome 4C

description: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.


name: spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

description: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.


name: susceptibility to respiratory infections associated with CD8alpha chain mutation

description: Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.


patterned macular dystrophy 2

description: Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene.


immunodeficiency 104

description: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.


Meacham syndrome

description: Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.


BNAR syndrome

description: BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.


autosomal dominant sensory ataxia 1

description: Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene.


name: autosomal recessive nonsyndromic hearing loss 36

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene.


name: mitochondrial trifunctional protein deficiency

description: Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..


name: long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

description: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.


cataract 28

description: A cataract that has material basis in variation in the region 6p12-q12.


Emanuel syndrome

description: Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.


name: posterior column ataxia-retinitis pigmentosa syndrome

description: Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa.


name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature


name: arrhythmogenic right ventricular dysplasia 9

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene.


hereditary spastic paraplegia 27

description: A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1.


name: skeletal dysplasia, rhizomelic, with retinitis pigmentosa


name: melanoma, cutaneous malignant, susceptibility to, 3


Pierson syndrome

description: Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.


Fanconi anemia complementation group I

description: Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.


Fanconi anemia complementation group J

description: Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.


neuronal ceroid lipofuscinosis 9

description: Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: epidermolysis bullosa simplex 7, with nephropathy and deafness


name: hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

description: Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.


name: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

description: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.


name: autosomal dominant limb-girdle muscular dystrophy type 1G

description: Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.


description: Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.


name: autosomal dominant auditory neuropathy 1

description: Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.


idiopathic aplastic anemia

description: Aplastic anemia without a known cause.


PCWH syndrome

description: A syndrome characterized by the association of the features of Waardenburg-Shah syndrome (WSS) (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy.


name: posterior polymorphous corneal dystrophy 2

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene.


name: posterior polymorphous corneal dystrophy 3

description: Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.