osteogenesis imperfecta, type 19

description: An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.


name: factor 5 and Factor VIII, combined deficiency of, 2

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

description: Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.


name: short-rib thoracic dysplasia 6 with or without polydactyly

description: A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.


name: amyotrophic lateral sclerosis, susceptibility to, 24


hereditary spastic paraplegia 75

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


Bartter disease type 5

description: Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.


name: immunodeficiency due to MASP-2 deficiency

description: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.


name: mitochondrial complex III deficiency nuclear type 8

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene.


Chediak-Higashi syndrome

description: ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.


retinitis pigmentosa 62

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


name: developmental and epileptic encephalopathy, 21

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene.


corneal dystrophy, Fuchs endothelial, 3

description: Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene.


name: skin creases, congenital symmetric circumferential, 2


name: methylmalonic aciduria and homocystinuria type cblC

description: A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.


precocious puberty, central, 2

description: Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene.


name: Hereditary Non-Polyposis Colon Cancer Type 2

description: A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.


Muir-Torre syndrome

description: A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.


endometrial cancer

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


Dubin-Johnson syndrome

description: Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.


name: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5


name: pyruvate dehydrogenase E1-alpha deficiency

description: Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction.


name: pyruvate dehydrogenase E1-beta deficiency

description: Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia.


name: autosomal recessive nonsyndromic hearing loss 74

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.


name: pyruvate dehydrogenase E3-binding protein deficiency

description: Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction.


Dowling-Degos disease 2

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


name: diaphyseal medullary stenosis-bone malignancy syndrome

description: Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).


inflammatory bowel disease 17

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene.


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.


name: hereditary myopathy with lactic acidosis due to ISCU deficiency

description: Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.


name: pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

description: A life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.


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.


name: junctional epidermolysis bullosa, non-Herlitz type

description: Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia.


name: epidermolysis bullosa simplex 1C, localized

description: A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.


amelogenesis imperfecta type 1H

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.


name: syndromic multisystem autoimmune disease due to ITCH deficiency


name: autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the JAGN1 gene, encoding protein jagunal homolog 1.


name: congenital reticular ichthyosiform erythroderma


name: epidermolysis bullosa simplex 1A, generalized severe

description: A basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.


name: epidermolysis bullosa simplex 1B, generalized intermediate

description: Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.


name: epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive

description: A basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering.


description: Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


pachyonychia congenita 2

description: Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene.


sebocystomatosis

description: Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities.


cirrhosis, familial

description: Cirrhosis in which no causative agent can be identified.


ataxia-telangiectasia-like disorder 1

description: Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene.


oculocerebrorenal syndrome

description: Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.


Dent disease type 2

description: Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features.


name: amelogenesis imperfecta hypomaturation type 2A4

description: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.


name: autosomal recessive inherited pseudoxanthoma elasticum

description: An autosomal recessive form of PXE.


name: arterial calcification, generalized, of infancy, 2

description: Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene.


maple syrup urine disease type 1A

description: A maple syrup urine disease caused by mutations in BCKDHA.


pyruvate dehydrogenase E2 deficiency

description: Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood.


prostate cancer, hereditary, 13

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


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


orofaciodigital syndrome I

description: A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.


Simpson-Golabi-Behmel syndrome type 2

description: Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.


Joubert syndrome 10

description: Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.


retinitis pigmentosa 23

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene.


tooth agenesis, selective, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.


tooth and nail syndrome

description: Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia.


orofacial cleft 5

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


parietal foramina 1

description: Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.


name: parietal foramina with cleidocranial dysplasia

description: Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.


craniosynostosis 2

description: A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.


Bardet-Biedl syndrome 17

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene.


name: autosomal recessive familial Mediterranean fever

description: Autosomal recessive form of familial Mediterranean fever.


name: familial Mediterranean fever, autosomal dominant


X-linked adrenal hypoplasia congenita

description: A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.


name: cholestasis, progressive familial intrahepatic, 5

description: Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.


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.


name: macular dystrophy with central cone involvement


name: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

description: An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


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: hydrocephalus, nonsyndromic, autosomal recessive 2

description: Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene.


description: A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.


glucocorticoid deficiency 2

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


name: epilepsy, idiopathic generalized, susceptibility to, 9

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


episodic ataxia type 5

description: Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours.


name: autosomal recessive nonsyndromic hearing loss 12

description: An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.


neuronal ceroid lipofuscinosis 13

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene.


primary ciliary dyskinesia 20

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.


Meckel syndrome, type 6

description: Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


Joubert syndrome 9

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene.


name: Ehlers-Danlos syndrome, periodontal type 1


name: combined oxidative phosphorylation deficiency 33

description: An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.


name: autosomal recessive nonsyndromic hearing loss 93

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene.


name: hereditary diffuse gastric adenocarcinoma

description: An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.


blepharocheilodontic syndrome 1

description: Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 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.


biotinidase deficiency

description: Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


name: corticosterone methyloxidase type 1 deficiency


name: corticosterone methyloxidase type 2 deficiency


glucocorticoid-remediable aldosteronism

description: Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.


name: intellectual disability, autosomal recessive 3

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


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy.


Ritscher-Schinzel syndrome 2

description: Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.


complement component C1s deficiency

description: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.


name: Ehlers-Danlos syndrome, periodontal type 2


name: neurodegeneration with brain iron accumulation 8


spinocerebellar ataxia type 42

description: An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.


name: intellectual disability, autosomal dominant 3

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene.


Timothy syndrome

description: Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.


Brugada syndrome 3

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


psoriasis 2

description: Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene.


familial pityriasis rubra pilaris

description: A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.


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.


creatine phosphokinase, elevated serum

description: A laboratory test result which indicates increased levels of creatine phosphokinase in a biological specimen.


rippling muscle disease 2

description: An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.


hypertrophic cardiomyopathy 1

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


long QT syndrome 9

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


distal myopathy, Tateyama type

description: Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.


familial hypocalciuric hypercalcemia 1

description: Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene.


name: neonatal severe primary hyperparathyroidism

description: Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.


autosomal dominant hypocalcemia 1

description: Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.


name: epilepsy, idiopathic generalized, susceptibility to, 8

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


primary ciliary dyskinesia 17

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.


classic homocystinuria

description: Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.


name: Hennekam lymphangiectasia-lymphedema syndrome 1

description: Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.


Elsahy-Waters syndrome

description: An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.


Brugada syndrome 4

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


dystonia 23

description: Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene.


autosomal recessive osteopetrosis 3

description: Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.


name: diabetes mellitus, noninsulin-dependent, 1


Desbuquois dysplasia 1

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.


name: congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

description: Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.


sarcoidosis, susceptibility to, 2

description: Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene.


late-onset retinal degeneration

description: Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.


name: intellectual disability, autosomal dominant 34

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene.


retinitis pigmentosa 17

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene.


name: predisposition to invasive fungal disease due to CARD9 deficiency


name: sinoatrial node dysfunction and deafness

description: Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.


name: aldosterone-producing adenoma with seizures and neurological abnormalities

description: An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.


CAPN5-related vitreoretinopathy

description: An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.


name: autosomal recessive spastic paraplegia type 76

description: Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.


hereditary antithrombin deficiency

description: A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).


name: developmental and epileptic encephalopathy, 48

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene.


hypotrichosis 1

description: Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene.


hereditary spastic paraplegia 47

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene.


name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1


name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies


pulmonary hypertension, primary, 1

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene.


granular corneal dystrophy type I

description: Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe.


lattice corneal dystrophy type I

description: Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations.


Thiel-Behnke corneal dystrophy

description: Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment.


Reis-Bucklers corneal dystrophy

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


corneal dystrophy, lattice type 3A

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


granular corneal dystrophy type II

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


name: multiple mitochondrial dysfunctions syndrome 2

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.


diaphanospondylodysostosis

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


brachydactyly type A1D

description: Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.


name: neonatal-onset encephalopathy with rigidity and seizures


Bartter disease type 4A

description: Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene.


name: congenital stationary night blindness 2A

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene.


Aland island eye disease

description: An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.


retinal cone dystrophy 4

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


Hermansky-Pudlak syndrome 9

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


osteogenesis imperfecta type 13

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.


holocarboxylase synthetase deficiency

description: A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.


name: breast-ovarian cancer, familial, susceptibility to, 2

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene.


Fanconi anemia complementation group D1

description: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.


paragangliomas 3

description: Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.


cardiofaciocutaneous syndrome 1

description: Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene.


Noonan syndrome 7

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


LEOPARD syndrome 3

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


name: congenital hypotrichosis with juvenile macular dystrophy

description: A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.


EEM syndrome

description: EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).


name: intellectual developmental disorder with dysmorphic facies and ptosis


mosaic variegated aneuploidy syndrome

description: An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.


Bruton-type agammaglobulinemia

description: X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy.


name: isolated growth hormone deficiency type III


temtamy syndrome

description: Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.


beta-ureidopropionase deficiency

description: Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).


orofaciodigital syndrome type 14

description: Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.


name: combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia


name: malignant hyperthermia, susceptibility to, 5

description: Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene.


name: thyrotoxic periodic paralysis, susceptibility to, 1

description: Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.


name: congenital generalized lipodystrophy type 2

description: Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.


hereditary spastic paraplegia 17

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene.


name: neuronopathy, distal hereditary motor, type 5A


name: severe neurodegenerative syndrome with lipodystrophy


name: autosomal recessive spinocerebellar ataxia 17

description: Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene.


name: catecholaminergic polymorphic ventricular tachycardia 4

description: Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene.


long QT syndrome 14

description: Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene.


BENTA disease

description: BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N<l) and few memory B cells. Other findings are low levels of IgM in blood and poor antibody responses to specific vaccines. BENTA disease is caused by mutations in the CARD11 gene. There is no established treatment, but some patients have their spleen removed and there is one case of a hematopoietic stem cell transplantation with good results.


name: severe combined immunodeficiency due to CARD11 deficiency

description: Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections.


name: immunodeficiency 11b with atopic dermatitis

description: An autosomal dominant condition caused by mutation(s) in the CARD11 gene, encoding caspase recruitment domain-containing protein 11. It is characterized by the onset of moderate to severe atopic dermatitis in early childhood, defects in T-cell activation, increased IgE, and eosinophilia.


name: focal segmental glomerulosclerosis 4, susceptibility to

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene.


name: periventricular heterotopia with microcephaly, autosomal recessive


name: restless legs syndrome, susceptibility to, 6


Bardet-Biedl syndrome 12

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene.


vitelliform macular dystrophy 2

description: Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region.


retinitis pigmentosa 50

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


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).


description: Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.


aromatase deficiency

description: Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men.


name: microphthalmia with brain and digit anomalies

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


orofacial cleft 11

description: Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene.


ovarian dysgenesis 2

description: Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene.


intellectual disability, X-linked 93

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.


cataract 33

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


GM1 gangliosidosis type 1

description: GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.


GM1 gangliosidosis type 2

description: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.


GM1 gangliosidosis type 3

description: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.


mucopolysaccharidosis type 4B

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.


name: maturity-onset diabetes of the young type 11

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


name: agammaglobulinemia 4, autosomal recessive

description: Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene.


Bardet-Biedl syndrome 18

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.


Dias-Logan syndrome

description: Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene.


immunodeficiency 49

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.


name: microcephaly 8, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.


hyperbiliverdinemia

description: Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.


name: renal dysplasia, cystic, susceptibility to


Bardet-Biedl syndrome 5

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene.


Bardet-Biedl syndrome 7

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene.


spinocerebellar ataxia type 31

description: Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.


mucopolysaccharidosis type 7

description: Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


Bardet-Biedl syndrome 10

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene.


name: hereditary hypercarotenemia and vitamin A deficiency

description: Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.


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.


name: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

description: A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.


name: chromosome 17P13.3, telomeric, duplication syndrome


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.


Hermansky-Pudlak syndrome 8

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Bloom syndrome

description: Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.


Bardet-Biedl syndrome 2

description: Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene.


retinitis pigmentosa 74

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene.


myopathy, centronuclear, 2

description: Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.


name: short stature with microcephaly and distinctive facies


description: This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.


name: autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures

description: An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.


name: platelet abnormalities with eosinophilia and immune-mediated inflammatory disease


name: developmental and epileptic encephalopathy, 8


Stickler syndrome type 2

description: Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).


Marshall syndrome

description: Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


fibrochondrogenesis 1

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.


name: autosomal dominant nonsyndromic hearing loss 9

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


name: hypotonia, ataxia, and delayed development syndrome


name: congenital disorder of glycosylation, type IIq


name: COG4-congenital disorder of glycosylation

description: COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.


name: COG6-ongenital disorder of glycosylation


name: hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome


Weill-Marchesani syndrome 1

description: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.


Seckel syndrome 1

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


name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL


name: congenital thrombotic thrombocytopenic purpura

description: Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


epithelial recurrent erosion dystrophy

description: Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.


spinocerebellar ataxia type 10

description: Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances.


spinocerebellar ataxia type 1

description: Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.


3MC syndrome 3

description: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene.


3MC syndrome 2

description: Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.


spinocerebellar ataxia type 2

description: A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.


3-methylglutaconic aciduria type 1

description: 3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.


Machado-Joseph disease

description: Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations.


spinocerebellar ataxia type 8

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


name: autism spectrum disorder due to AUTS2 deficiency

description: Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.


juvenile onset Parkinson disease 19A

description: Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene.


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.


congenital myasthenic syndrome 5

description: Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.


name: short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay


coenzyme Q10 deficiency, primary, 1

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


name: multiple system atrophy 1, susceptibility to


name: familial steroid-resistant nephrotic syndrome with sensorineural deafness


primary coenzyme Q10 deficiency 8

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene.


nephrotic syndrome, type 9

description: Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene.


name: encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

description: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.


Steel syndrome

description: A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.


preeclampsia/eclampsia 5

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


name: Bosch-Boonstra-Schaaf optic atrophy syndrome

description: Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific.


southeast Asian ovalocytosis

description: Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.


hereditary spherocytosis type 4

description: Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene.


name: autosomal dominant distal renal tubular acidosis

description: Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.


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.


cryohydrocytosis

description: A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.


Larsen-like syndrome, B3GAT3 type

description: Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11

description: Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 2

description: Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.


name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures

description: Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


name: B4GALT1-congenital disorder of glycosylation

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


hypercholesterolemia, familial, 4

description: An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.


Coffin-Siris syndrome 6

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene.


Coffin-Siris syndrome 1

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B 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: charcot-marie-tooth disease, axonal, type 2DD


Kufor-Rakeb syndrome

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


name: autosomal recessive spastic paraplegia type 78

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene.


myotonia congenita, autosomal recessive

description: Autosomal recessive form of myotonia congenita.


phosphohydroxylysinuria

description: An elevated concentration of phosphohydroxylysine in the urine.


name: hypophosphatemic rickets, X-linked recessive

description: Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.


Dent disease type 1

description: Dent disease type 1 is a type of Dent disease with predominantly renal manifestations.


name: nephrolithiasis, X-linked recessive, with renal failure


name: proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


hyperekplexia 4

description: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400).


name: combined oxidative phosphorylation deficiency 22


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B

description: Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene.


Usher syndrome type 3A

description: Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene.


retinitis pigmentosa 61

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene.


name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.


Ullrich congenital muscular dystrophy 2

description: Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.


congenital myasthenic syndrome 19

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.


name: alpha thalassemia-X-linked intellectual disability syndrome

description: X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.


name: intellectual disability-hypotonic facies syndrome, X-linked, 1

description: A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.


description: Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).


name: COG5-congenital disorder of glycosylation

description: COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia.


tyrosinemia type II

description: Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.


name: Ehlers-Danlos syndrome, dermatosparaxis type

description: A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.


heterotaxy, visceral, 4, autosomal

description: Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene.


name: progressive familial intrahepatic cholestasis type 1

description: PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.


name: benign recurrent intrahepatic cholestasis type 1

description: Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.


name: cholestasis, intrahepatic, of pregnancy, 1


name: intellectual disability, autosomal dominant 56


name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

description: A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.


neuronal ceroid lipofuscinosis 3

description: A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.


neuronal ceroid lipofuscinosis 8

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene.


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.


NARP syndrome

description: Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.


name: striatonigral degeneration, infantile, mitochondrial


name: myopathy, lactic acidosis, and sideroblastic anemia 3


Perrault syndrome 3

description: Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.


name: developmental and epileptic encephalopathy, 39

description: A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.


citrullinemia, type II, adult-onset

description: Adult-onset citrullinemia type II is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. The condition chiefly affects the nervous system, causing confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. These signs and symptoms can be life-threatening. The signs and symptoms appear during adulthood and are triggered by certain medications, infections, surgery, and alcohol intake.The features of adult-onset type II citrullinemia may also develop in people who as infants had a liver disorder called neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). In many cases, the signs and symptoms of NICCD resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult-onset type II citrullinemia.adult-onset citrullinemia type II is caused by mutations in the SLC25A13 gene. This condition is inherited in an autosomal recessive pattern.


name: neonatal intrahepatic cholestasis due to citrin deficiency

description: Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene.


intellectual disability, X-linked 46

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene.


primary ciliary dyskinesia 23

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.


name: autosomal recessive spinocerebellar ataxia 16

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene.


name: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3

description: Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene.


Schmid metaphyseal chondrodysplasia

description: Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.


name: COG7-congenital disorder of glycosylation

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


name: 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: autosomal dominant cerebellar ataxia type II

description: An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.


name: neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


name: autosomal recessive ataxia due to ubiquinone deficiency

description: This syndrome is characterized by childhood-onset progressive ataxia and cerebellar atrophy.


name: severe combined immunodeficiency due to CORO1A deficiency


name: congenital heart defects, multiple types, 4

description: Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene.


Peters plus syndrome

description: An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.


Meckel syndrome, type 9

description: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene.


Joubert syndrome 27

description: Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene.


name: mitochondrial non-syndromic sensorineural hearing loss


immunodeficiency 37

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene.


MALT lymphoma

description: An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)


name: otospondylomegaepiphyseal dysplasia, autosomal dominant

description: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.


name: otospondylomegaepiphyseal dysplasia, autosomal recessive


name: autosomal dominant nonsyndromic hearing loss 13

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


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.


fibrochondrogenesis 2

description: Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene.


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.


spermatogenic failure 5

description: Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).


caudal duplication

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


name: microcephaly 19, primary, autosomal recessive


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.


name: Ehlers-Danlos syndrome, spondylodysplastic type, 1


Meckel syndrome, type 10

description: Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene.


myofibrillar myopathy 6

description: Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly.


dilated cardiomyopathy 1HH

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene.


name: branched-chain keto acid dehydrogenase kinase deficiency

description: A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.


GRACILE syndrome

description: GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).


name: mitochondrial complex III deficiency nuclear type 1

description: Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.


Bjornstad syndrome

description: Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome.


name: severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

description: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).


name: microcephaly 12, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.


name: multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


cone-rod dystrophy 16

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.


bardet-biedl syndrome 21

description: BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900).


retinitis pigmentosa 49

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene.


name: microcephaly 23, primary, autosomal recessive


name: hypomagnesemia, seizures, and intellectual disability 1


Jalili syndrome

description: Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).


name: developmental and epileptic encephalopathy, 60


name: lethal congenital contracture syndrome 7

description: Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.


Caffey disease

description: Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.


name: Ehlers-Danlos syndrome, arthrochalasia type

description: Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.


osteogenesis imperfecta type 1

description: Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.


osteogenesis imperfecta type 2

description: Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.


osteogenesis imperfecta type 3

description: Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI).


osteogenesis imperfecta type 4

description: Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI).


X-linked Alport syndrome

description: X-linked form of Alport syndrome.


hearing loss, X-linked 6

description: Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.


name: type I complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene.


Ehlers-Danlos syndrome, classic type, 2

description: Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.


epiphyseal dysplasia, multiple, 3

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 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.


name: ehlers-danlos syndrome, arthrochalasia type, 2


description: Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency.


name: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10


name: ventricular fibrillation, paroxysmal familial, 2

description: Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene.


name: intellectual disability, autosomal dominant 33

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.


description: Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner.


dihydropyrimidinuria

description: Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.


name: ichthyosis, congenital, autosomal recessive 13


cone-rod dystrophy 21

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene.


primary ciliary dyskinesia 21

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene.


primary ciliary dyskinesia 27

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.


primary ciliary dyskinesia 33

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.


multiple epiphyseal dysplasia type 1

description: Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.


pseudoachondroplasia

description: Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.


name: fibrosis of extraocular muscles, congenital, 5

description: Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene.


tremor, hereditary essential, 1

description: Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene.


name: autoimmune interstitial lung disease-arthritis syndrome

description: A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.


name: blepharospasm, benign essential, susceptibility to


name: nephrogenic syndrome of inappropriate antidiuresis

description: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.


name: diabetes insipidus, nephrogenic, X-linked


amyotrophic lateral sclerosis type 8

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


name: adult-onset proximal spinal muscular atrophy, autosomal dominant


pontocerebellar hypoplasia type 1A

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


Quebec platelet disorder

description: Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds.


Usher syndrome type 1G

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


retinitis pigmentosa 39

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene.


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

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


lysinuric protein intolerance

description: Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism.


xeroderma pigmentosum group A

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


spondylo-ocular syndrome

description: Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.


osteogenesis imperfecta type 15

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.


Desbuquois dysplasia 2

description: Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.


retinitis pigmentosa 2

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene.


name: spinocerebellar ataxia, autosomal recessive 26


Cohen syndrome

description: Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.


Parkinson disease 17

description: Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene.


name: short-rib thoracic dysplasia 8 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.


phocomelia, Schinzel type

description: Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.