name: familial hyperthyroidism due to mutations in TSH receptor

description: Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.


familial pseudohyperkalemia

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

description: An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.


name: autosomal dominant striatal neurodegeneration type 1

description: Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia.


name: spondyloepiphyseal dysplasia with metatarsal shortening

description: A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.


name: congenital reticular ichthyosiform erythroderma


branchiogenic deafness syndrome

description: Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.


name: migraine with aura, susceptibility to, 7


name: MPDU1-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.


Loeys-Dietz syndrome 1

description: A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.


hereditary spastic paraplegia 26

description: A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1.


glucocorticoid deficiency 3

description: A variant of familial glucocorticoid deficiency caused by a defect in the steroidogenic acute regulatory protein; it may mimic lipoid congenital adrenal hyperplasia.


myofibrillar myopathy 3

description: A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.


name: foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


Bruck syndrome 2

description: Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.


name: dandy-walker malformation with occipital cephalocele, autosomal dominant


name: spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


Griscelli syndrome type 3

description: A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


name: alpha-N-acetylgalactosaminidase deficiency type 1

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy.


name: alpha-N-acetylgalactosaminidase deficiency type 2

description: Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy.


name: hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate


Senior-Loken syndrome 5

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.


Charcot-Marie-Tooth disease type 2A2

description: Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.


name: autosomal recessive spinocerebellar ataxia 7

description: Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner.


nemaline myopathy 6

description: Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.


name: congenital myopathy 4B, autosomal recessive

description: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.


congenital myopathy 23

description: Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.


name: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


name: developmental and epileptic encephalopathy, 3

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.


spinocerebellar ataxia type 26

description: Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.


spinocerebellar ataxia type 27

description: Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.


Lynch syndrome 2

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.


Charcot-Marie-Tooth disease type 4H

description: Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy


MEDNIK syndrome

description: MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).


name: rhabdoid tumor predisposition syndrome 1

description: Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.


name: multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

description: Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


name: multiple epiphyseal dysplasia, with miniepiphyses

description: Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.


hereditary spastic paraplegia 28

description: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.


name: epidermolysis bullosa simplex 2E, with migratory circinate erythema

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema.


colloid cysts of third ventricle

description: Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.


cataract 35

description: A cataract that has material basis in variation in the region 19q13.


name: fibrosis of extraocular muscles, congenital, 3c


name: autoimmune disease, susceptibility to, 4


preeclampsia/eclampsia 4

description: Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene.


holoprosencephaly 8

description: A holoprosencephaly that has material basis in variation in the chromosome region 14q13.


AIDS

description: A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.


chromosome 3q29 microdeletion syndrome

description: 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.


name: mesoaxial synostotic syndactyly with phalangeal reduction

description: Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


name: intellectual disability, keratoconus, febrile seizures, and sinoatrial block


name: autosomal recessive nonsyndromic hearing loss 48

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene.


fetal valproate syndrome

description: Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


name: generalized epilepsy-paroxysmal dyskinesia syndrome

description: Generalized epilepsy-paroxysmal dyskinesia syndrome is characterized by the association of paroxysmal dyskinesia and generalized epilepsy (usually absence or generalized tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.


myofibrillar myopathy 4

description: Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases.


Goldberg-Shprintzen syndrome

description: A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.


Al-Gazali syndrome

description: An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.


name: cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss


name: myopathy, autophagic vacuolar, infantile-onset


name: Stickler syndrome, type I, nonsyndromic ocular


name: iridogoniodysgenesis and skeletal anomalies


myofibrillar myopathy 5

description: Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.


CEDNIK syndrome

description: CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.


immunoglobulin A deficiency 2

description: Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene.


name: autosomal recessive nonsyndromic hearing loss 23

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene.


complement component 5 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.


lipomyelomeningocele

description: Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


name: spastic paraplegia, optic atropy, and neuropathy

description: A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.


name: omphalocele, diaphragmatic hernia, and radial ray defects


nanophthalmos 2

description: Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene.


name: mitochondrial DNA depletion syndrome, myopathic form

description: Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.


name: migraine with or without aura, susceptibility to, 8


name: familial scaphocephaly syndrome, McGillivray type

description: Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.


Joubert syndrome with renal defect

description: A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.


parietal foramina 2

description: Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene.


name: fibrosis of extraocular muscles, congenital, with synergistic divergence


name: spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness


short QT syndrome type 1

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene.


short QT syndrome type 2

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


short QT syndrome type 3

description: Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene.


distal 10q deletion syndrome

description: Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.


Majeed syndrome

description: Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.


name: visceral neuropathy, familial, 3, autosomal dominant


name: leukemia, chronic lymphocytic, susceptibility to, 1


migraine, familial hemiplegic, 3

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene.


Alzheimer disease 10

description: An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.


holoprosencephaly 5

description: Holoprosencephaly associated with mutations in the ZIC2 gene.


name: lethal acantholytic epidermolysis bullosa

description: Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters.


Frias syndrome

description: A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.


name: autosomal recessive nonsyndromic hearing loss 42

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene.


name: autosomal recessive nonsyndromic hearing loss 46

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31.


trichilemmal cyst

description: Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.


name: short stature and Facioauriculothoracic malformations


talo-patello-scaphoid osteolysis

description: Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.


name: migraine with aura, susceptibility to, 9


name: autosomal recessive nonsyndromic hearing loss 53

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.


hereditary spastic paraplegia 29

description: Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.


name: obesity due to pro-opiomelanocortin deficiency

description: Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.


cataract 22 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 4


celiac disease, susceptibility to, 4

description: Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene.


celiac disease, susceptibility to, 3

description: Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene.


7q11.23 microduplication syndrome

description: 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.


Alzheimer disease 11

description: An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.


acral peeling skin syndrome

description: Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet.


name: generalized epilepsy with febrile seizures plus, type 4


name: hamartoma, Precalcaneal congenital fibrolipomatous


name: maturity-onset diabetes of the young type 8

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene.


name: spondylocostal dysostosis 3, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene.


name: vasculitis, lymphocytic, cutaneous small vessel


erythrocytosis, familial, 3

description: Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.


platelet-type bleeding disorder 8

description: P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate.


name: autosomal recessive nonsyndromic hearing loss 28

description: An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.


name: combined immunodeficiency due to partial RAG1 deficiency

description: A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.


congenital nongoitrous hypothyroidism 3

description: A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


name: systemic lupus erythematosus, susceptibility to, 5


dilated cardiomyopathy 1P

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


retinitis pigmentosa 32

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3.


dilated cardiomyopathy 1Q

description: A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1.


retinitis pigmentosa 31

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


aminoacylase 1 deficiency

description: Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.


name: systemic lupus erythematosus, susceptibility to, 6


name: autosomal recessive nonsyndromic hearing loss 51

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12.


Noonan syndrome 3

description: Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene.


name: ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features


name: brachyphalangy, polydactyly, and tibial aplasia/hypoplasia


name: autosomal recessive nonsyndromic hearing loss 47

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3.


name: autosomal recessive nonsyndromic hearing loss 55

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2.


name: asthma-related traits, susceptibility to, 3


name: autosomal dominant nonsyndromic hearing loss 53

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12.


hyperinsulinism due to INSR deficiency

description: Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset.


name: hyperinsulinemic hypoglycemia, familial, 4

description: Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.


description: The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterized by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localized to within a 12-Mb region on chromosome 8p11.23-q11.21.


name: metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands


name: osteosclerosis-ichthyosis-premature ovarian failure syndrome

description: This syndrome is characterized by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals.


name: arthrogryposis multiplex with deafness, inguinal hernias, and early death


name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant

description: Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.


description: A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.


name: congenital brain dysgenesis due to glutamine synthetase deficiency


multiple synostoses syndrome 2

description: Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.


cataract 18

description: Any cataract in which the cause of the disease is a mutation in the FYCO1 gene.


exercise-induced hyperinsulinism

description: Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells.


name: brachydactyly, coloboma, and anterior segment dysgenesis


name: complex cortical dysplasia with other brain malformations 7

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene.


name: cortical dysplasia-focal epilepsy syndrome

description: An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.


congenital stromal corneal dystrophy

description: Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss.


name: systemic lupus erythematosus, susceptibility to, 7


name: systemic lupus erythematosus, susceptibility to, 8


polyposis syndrome, hereditary mixed, 2

description: Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene.


pyridoxal phosphate-responsive seizures

description: Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.


name: microphthalmia, isolated, with coloboma 3

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene.


isolated microphthalmia 2

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene.


description: Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.


giant axonal neuropathy 2

description: Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.


complement component 7 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene.


syndromic microphthalmia type 5

description: Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.


neuronal ceroid lipofuscinosis 10

description: A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4

description: Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.


heart-hand syndrome, Slovenian type

description: A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.


name: autosomal recessive nonsyndromic hearing loss 62

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23.


age related macular degeneration 7

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene.


name: autosomal recessive nonsyndromic hearing loss 49

description: An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.


name: autosomal recessive nonsyndromic hearing loss 44

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene.


type 1 diabetes mellitus 19

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3.


MORM syndrome

description: MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.


immunodeficiency 25

description: Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene.


Loeys-Dietz syndrome 2

description: A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.


Aicardi-Goutieres syndrome 2

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene.


diaphragmatic hernia 3

description: Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene.


Joubert syndrome 5

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene.


Senior-Loken syndrome 6

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene.


name: arrhythmogenic right ventricular dysplasia 10

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene.


3-methylglutaconic aciduria type 5

description: A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.


name: neonatal diabetes mellitus with congenital hypothyroidism

description: A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others


cataract 21 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene.


pontocerebellar hypoplasia type 5

description: Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5.


name: Alagille syndrome due to a NOTCH2 point mutation


name: migraine with or without aura, susceptibility to, 10


name: migraine with or without aura, susceptibility to, 11


name: autosomal recessive nonsyndromic hearing loss 66

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene.


name: neurodegeneration with brain iron accumulation 2B


name: autosomal recessive nonsyndromic hearing loss 59

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


name: seborrhea-like dermatitis with psoriasiform elements


hereditary spastic paraplegia 33

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene.


spinocerebellar ataxia type 23

description: Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.


spinocerebellar ataxia type 28

description: Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.


name: autosomal recessive nonsyndromic hearing loss 65

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3.


hereditary spastic paraplegia 31

description: A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense.


alcohol sensitivity, acute

description: Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment.


Kleefstra syndrome

description: A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.


congenital primary aphakia

description: Congenital primary aphakia (CPA) is characterized by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents.


name: pyloric stenosis, infantile hypertrophic, 2


name: hypertension, essential, susceptibility to, 5


name: hypertension, essential, susceptibility to, 6


name: autosomal recessive nonsyndromic hearing loss 67

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene.


name: autosomal recessive frontotemporal pachygyria


retinitis pigmentosa 35

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene.


cone-rod dystrophy 10

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene.


name: hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

description: The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.


name: Parkinson disease 13, autosomal dominant, susceptibility to

description: Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene.


cold-induced sweating syndrome 2

description: Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.


name: rhizomelic dysplasia, scoliosis, and retinitis pigmentosa


Aicardi-Goutieres syndrome 3

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.


Aicardi-Goutieres syndrome 4

description: Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.


name: right pulmonary artery, anomalous origin of, familial


name: autosomal dominant nocturnal frontal lobe epilepsy 4

description: Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene.


name: cone dystrophy with supernormal rod response

description: Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.


hereditary spastic paraplegia 30

description: Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.


retinitis pigmentosa 33

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene.


congenital malabsorptive diarrhea 4

description: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported.


name: diabetes mellitus, transient neonatal, 2

description: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


cone-rod dystrophy 11

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene.


prosopagnosia, hereditary

description: An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome.


name: autosomal recessive nonsyndromic hearing loss 68

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene.


name: preauricular tag, isolated, autosomal dominant, 1


name: alopecia-intellectual disability syndrome 2


cataract 23

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene.


name: cone-rod synaptic disorder, congenital nonprogressive


name: restless legs syndrome, susceptibility to, 3


name: restless legs syndrome, susceptibility to, 4


testicular microlithiasis

description: The deposition of calcium phosphate microliths within the seminiferous tubules.


name: spondyloepimetaphyseal dysplasia, Genevieve type

description: A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.


Koolen-de Vries syndrome

description: A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.


name: congenital stationary night blindness autosomal dominant 3

description: A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21.


name: congenital stationary night blindness autosomal dominant 1

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene.


chilblain lupus 1

description: Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene.


name: normophosphatemic familial tumoral calcinosis


description: An inherited metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity.


name: camptodactyly-tall stature-scoliosis-hearing loss syndrome

description: Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.


name: pigmented nodular adrenocortical disease, primary, 2

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene.


name: arrhythmogenic right ventricular dysplasia 11

description: Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene.


retinal cone dystrophy 4

description: Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene.


description: A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.


name: pigmented nodular adrenocortical disease, primary, 1

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene.


name: combined oxidative phosphorylation defect type 2

description: Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.


name: preterm premature rupture of the membranes

description: A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation.


name: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

description: Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.


name: maturity-onset diabetes of the young type 7

description: Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene.


hypomyelinating leukodystrophy 5

description: Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.


description: Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.


name: Gaucher disease due to saposin C deficiency

description: Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene.


congenital myasthenic syndrome 12

description: Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene.


name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

description: Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.


insulin-resistance syndrome type A

description: Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.


herpes simplex encephalitis

description: Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness.


name: diabetes mellitus, transient neonatal, 3

description: Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.


retinitis pigmentosa 36

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


name: corticosterone methyloxidase type 2 deficiency


Leber congenital amaurosis 12

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene.


hereditary angioedema type 3

description: Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.


cataract 11 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene.


name: hypogonadotropic hypogonadism 4 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene.


Diamond-Blackfan anemia 3

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene.


name: palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

description: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterized by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The etiology is unknown.


xeroderma pigmentosum group B

description: Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene.


name: hereditary hemorrhagic telangiectasia type 4


name: combined oxidative phosphorylation defect type 4

description: Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.


name: holoprosencephaly, recurrent infections, and monocytosis


osteogenesis imperfecta type 7

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene.


name: split-hand/foot malformation with long bone deficiency 2


nemaline myopathy 7

description: Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.


Joubert syndrome 6

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


age related macular degeneration 4

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


name: deafness with labyrinthine aplasia, microtia, and microdontia

description: Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.


brachydactyly-syndactyly syndrome

description: Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common.


nephrotic syndrome, type 3

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene.


Noonan syndrome 4

description: Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene.


Kostmann syndrome

description: Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.


autosomal recessive ataxia, Beauce type

description: A rare disorder characterized by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.


multiple endocrine neoplasia type 4

description: Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.


cerebrooculofacioskeletal syndrome 2

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene.


cerebrooculofacioskeletal syndrome 4

description: Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.


Cornelia de Lange syndrome 3

description: Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.


name: DK1-congenital disorder of glycosylation

description: DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.


description: Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterized by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.


name: primary immunodeficiency syndrome due to p14 deficiency

description: Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.


name: congenital anomalies of kidney and urinary tract 1

description: Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.


holoprosencephaly 7

description: Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.


holoprosencephaly 9

description: Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.


Fanconi anemia complementation group N

description: Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.


name: body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

description: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs.


primary ciliary dyskinesia 6

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.


vesicoureteral reflux 2

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene.


Potocki-Lupski syndrome

description: 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.


branchiootorenal syndrome 2

description: Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.


name: asthma-related traits, susceptibility to, 4


name: autoimmune pulmonary alveolar proteinosis

description: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).


name: hereditary pulmonary alveolar proteinosis

description: Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure.


osteogenesis imperfecta type 8

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.


name: interstitial lung disease due to ABCA3 deficiency

description: Interstitial lung disease due to ABCA3 deficiency is a rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.


name: systemic lupus erythematosus, susceptibility to, 9

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene.


name: coronary heart disease, susceptibility to, 7

description: Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene.


name: coronary artery disease, autosomal dominant 2

description: Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.


name: hypertension, essential, susceptibility to, 7


neuronal ceroid lipofuscinosis 7

description: Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 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). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


Pitt-Hopkins syndrome

description: Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.


XFE progeroid syndrome

description: A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.


osteogenesis imperfecta type 5

description: Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).


osteogenesis imperfecta type 11

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.


brain-lung-thyroid syndrome

description: Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).


leprosy, susceptibility to, 4

description: Any leprosy in which the cause of the disease is a mutation in the LTA gene.


PSAT deficiency

description: Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.


name: hypertension, essential, susceptibility to, 8


name: autosomal recessive nonsyndromic hearing loss 24

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


episodic kinesigenic dyskinesia 2

description: A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1.


isolated microphthalmia 3

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene.


isolated microphthalmia 5

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.


name: Mycobacterium tuberculosis, susceptibility to, 2


name: asthma-related traits, susceptibility to, 5

description: Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene.


name: neuronopathy, distal hereditary motor, autosomal recessive 4

description: A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.


Alzheimer disease 12

description: An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.


inflammatory bowel disease 10

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene.


name: polyhydramnios, megalencephaly, and symptomatic epilepsy


name: intellectual disability, autosomal recessive 12


name: intellectual disability, autosomal recessive 5

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene.


name: intellectual disability, autosomal recessive 6

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene.


name: intellectual disability, autosomal recessive 7

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.


name: intellectual disability, autosomal recessive 9


name: intellectual disability, autosomal recessive 10


name: intellectual disability, autosomal recessive 11


deafness-infertility syndrome

description: Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.


name: leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

description: This disease is characterized by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.


name: intellectual disability, autosomal recessive 4


acyl-CoA dehydrogenase 9 deficiency

description: A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.


retinitis pigmentosa 37

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene.


Meckel syndrome, type 4

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 13

description: An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene.


name: coronary heart disease, susceptibility to, 8


paroxysmal nonkinesigenic dyskinesia 2

description: A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31.


Alzheimer disease 13

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.


Alzheimer disease 14

description: An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.


name: craniofacial dysplasia - osteopenia syndrome


name: COG8-congenital disorder of glycosylation

description: The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products.


name: restless legs syndrome, susceptibility to, 6


name: COG1-congenital disorder of glycosylation

description: COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.


microphthalmia-brain atrophy syndrome

description: Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter.


hereditary spastic paraplegia 18

description: A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.


Charcot-Marie-Tooth disease type 4J

description: Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.


name: restless legs syndrome, susceptibility to, 5


hereditary spastic paraplegia 32

description: Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.


asphyxiating thoracic dystrophy 2

description: Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.


isobutyryl-CoA dehydrogenase deficiency

description: An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).


Cernunnos-XLF deficiency

description: Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.


spastic ataxia 2

description: Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype of hereditary spastic paraplegia characterized by variable onset of slowly progressive lower limb spasticity and weakness and prominent cerebellar ataxia, associated with gait disturbances, dysarthria, increased deep tendon reflexes and extensor plantar responses. Additional features may include involuntary movements (i.e. clonus, tremor, fasciculations, chorea), decreased vibration sense, oculomotor abnormalities (e.g. nystagmus) and distal amyotrophy in the upper and lower limbs.


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

description: A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.


name: persistent hyperplastic primary vitreous, autosomal dominant


atrial septal defect 4

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene.


name: myoclonic epilepsy, juvenile, susceptibility to, 4


name: lethal congenital contracture syndrome 3

description: Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.


brachydactyly type B2

description: Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.


age related macular degeneration 9

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene.


name: susceptibility to visceral leishmaniasis, 2


name: susceptibility to visceral leishmaniasis, 3


Usher syndrome type 2D

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


spastic ataxia 3

description: Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene.


cataract 33

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene.


name: asthma-related traits, susceptibility to, 6


dilated cardiomyopathy 1W

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


Legius syndrome

description: Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.


name: autosomal recessive nonsyndromic hearing loss 63

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


cholelithiasis

description: The presence of calculi in the gallbladder.


age related macular degeneration 10

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene.


description: Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists.


autosomal recessive osteopetrosis 4

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene.


atrial fibrillation, familial, 4

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene.


autosomal recessive osteopetrosis 6

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.


nephronophthisis 7

description: Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene.


immunodeficiency 35

description: Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene.


pontocerebellar hypoplasia type 6

description: Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.


name: arrhythmogenic right ventricular dysplasia 12

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


cataract 17 multiple types

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene.


premature ovarian failure 5

description: Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.


Noonan syndrome 5

description: Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.


LEOPARD syndrome 2

description: Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.


name: renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


name: glycogen storage disease due to muscle and heart glycogen synthase deficiency

description: A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.


Joubert syndrome 7

description: Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


Meckel syndrome, type 5

description: Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.


Waardenburg syndrome type 2E

description: Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene.


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

description: A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.


name: renal tubular acidosis, distal, 4, with hemolytic anemia

description: Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia.


cataract 12 multiple types

description: A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.


lissencephaly due to TUBA1A mutation

description: Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.


dilated cardiomyopathy 1X

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


familial temporal lobe epilepsy 4

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.


name: microphthalmia, isolated, with coloboma 5

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.


name: Hirschsprung disease, susceptibility to, 9


name: spondylometaphyseal dysplasia, East African type


name: early-onset myopathy with fatal cardiomyopathy


name: migraine with or without aura, susceptibility to, 12


name: spondyloepiphyseal dysplasia, Cantu type

description: Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).


renal hypomagnesemia 4

description: Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.


name: hypotonia with lactic acidemia and hyperammonemia

description: This syndrome is characterized by severe hypotonia, lactic academia and congenital hyperammonaemia.


combined PSAP deficiency

description: Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.


name: Krabbe disease due to saposin A deficiency


progressive myoclonic epilepsy type 3

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.


Leber congenital amaurosis 10

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.


name: familial cold autoinflammatory syndrome 2

description: An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.


name: autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

description: A syndrome characterized by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal hemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.


mucocutaneous lymph node syndrome

description: Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.


Brugada syndrome 2

description: Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene.


erythrocytosis, familial, 4

description: Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene.


aortic aneurysm, familial thoracic 6

description: Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene.


elliptocytosis 1

description: Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene.


name: tremor, hereditary essential, and idiopathic normal pressure hydrocephalus


autosomal recessive bestrophinopathy

description: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).


SERKAL syndrome

description: SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.


Temple-Baraitser syndrome

description: A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.


long QT syndrome 9

description: Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.


long QT syndrome 10

description: Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene.


long QT syndrome 11

description: Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.


name: microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome

description: This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.


name: chromosome 22q11.2 deletion syndrome, distal

description: Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumors.


prostate cancer, hereditary, 12

description: Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.


Brugada syndrome 3

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene.


Brugada syndrome 4

description: Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene.


dilated cardiomyopathy 1Y

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.


dilated cardiomyopathy 1Z

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.


dilated cardiomyopathy 2A

description: A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.


name: glycogen storage disease due to aldolase A deficiency

description: Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggered by fever) without hemolytic anemia has recently been reported.


primary ciliary dyskinesia 7

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.


name: lethal arthrogryposis-anterior horn cell disease syndrome


amyotrophic lateral sclerosis type 9

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


episodic ataxia type 7

description: Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.


proximal 16p11.2 microdeletion syndrome

description: A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.


name: lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

description: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.


prostate cancer, hereditary, 13

description: Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.