name: congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

description: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.


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

description: Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.


retinitis pigmentosa 55

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene.


name: ectodermal dysplasia-cutaneous syndactyly syndrome


retinitis pigmentosa 56

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene.


retinitis pigmentosa 57

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene.


occult macular dystrophy

description: Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severely attenuated focal macular and multifocal electroretinograms.


name: torsade-de-pointes syndrome with short coupling interval

description: Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death.


name: early repolarization associated with ventricular fibrillation


name: chromosome 4Q32.1-q32.2 triplication syndrome


name: chromosome 16p12.2-p11.2 deletion syndrome

description: 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


cranioectodermal dysplasia 2

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.


name: lymphedema-posterior choanal atresia syndrome


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.


Senior-Loken syndrome 7

description: Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.


primary hyperoxaluria type 3

description: Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.


retinitis pigmentosa 58

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene.


name: familial clubfoot due to 17q23.1q23.2 microduplication

description: 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.


name: agenesis of the corpus callosum and congenital lymphedema


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

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: brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability


odontoid hypoplasia

description: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


cocoon syndrome

description: Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.


name: tuberculin skin test reactivity, absence of


chromosome 19p13.13 deletion syndrome

description: 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).


name: neuropathy, hereditary sensory and autonomic, type 1C

description: A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.


name: Charcot-Marie-Tooth disease recessive intermediate B

description: Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.


dilated cardiomyopathy 1GG

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


name: Parkinson disease 5, autosomal dominant, susceptibility to

description: An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.


name: methylmalonic acidemia due to transcobalamin receptor defect

description: Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.


hereditary spastic paraplegia 48

description: Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.


C1Q deficiency

description: C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor.


name: migraine, with or without aura, susceptibility to, 13

description: Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene.


d-2-hydroxyglutaric aciduria 2

description: Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene.


cone-rod dystrophy 15

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.


name: ALG11-congenital disorder of glycosylation

description: A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).


name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

description: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.


name: intellectual disability-severe speech delay-mild dysmorphism syndrome

description: Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene.


name: intellectual disability, anterior maxillary protrusion, and strabismus


spastic ataxia 4

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


name: congenital dyserythropoietic anemia type 4

description: Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.


vesicoureteral reflux 3

description: Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene.


name: chromosome 17q11.2 deletion syndrome, 1.4Mb

description: A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.


Seckel syndrome 4

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


familial hyperaldosteronism type III

description: Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia.


brachyolmia, Maroteaux type

description: Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias.


congenital prothrombin deficiency

description: Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms.


name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

description: Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.


name: autosomal recessive nonsyndromic hearing loss 83

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2.


name: spondylocostal dysostosis 4, autosomal recessive

description: Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene.


long QT syndrome 2

description: An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


mammary-digital-nail syndrome

description: Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.


hypertrophic cardiomyopathy 7

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene.


long QT syndrome 6

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene.


dilated cardiomyopathy 1U

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene.


long QT syndrome 5

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


dilated cardiomyopathy 1V

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene.


name: Klippel-Feil syndrome 3, autosomal dominant

description: Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene.


name: microphthalmia, isolated, with coloboma 6


isolated microphthalmia 7

description: Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene.


orofacial cleft 10

description: Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 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.


neuropathy, hereditary sensory, type 1D

description: A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.


name: progressive demyelinating neuropathy with bilateral striatal necrosis

description: Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.


name: Hirschsprung disease, susceptibility to, 3


name: Hirschsprung disease, susceptibility to, 4

description: An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.


Treacher Collins syndrome 2

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.


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: developmental and epileptic encephalopathy, 7

description: KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.


name: developmental and epileptic encephalopathy, 11

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene.


name: developmental and epileptic encephalopathy, 12

description: An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.


sterol carrier protein 2 deficiency

description: A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.


name: autosomal recessive spinocerebellar ataxia 10

description: Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene.


distal 7q11.23 microdeletion syndrome

description: Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).


name: porencephaly-microcephaly-bilateral congenital cataract syndrome


retinitis pigmentosa 4

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


chromosome 1p32-p31 deletion syndrome

description: 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.


acne inversa, familial, 2

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene.


acne inversa, familial, 3

description: Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.


name: Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency

description: A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels.


hereditary spastic paraplegia 51

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene.


retinitis pigmentosa 27

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


heterotaxy, visceral, 4, autosomal

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


name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase

description: Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.


retinitis pigmentosa 49

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


age related macular degeneration 6

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene.


retinitis pigmentosa 47

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


FADD-related immunodeficiency

description: A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.


age related macular degeneration 5

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene.


cataract 16 multiple types

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


hypertrophic cardiomyopathy 9

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


retinitis pigmentosa 45

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene.


retinitis pigmentosa 44

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


age related macular degeneration 8

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene.


complement component 3 deficiency

description: A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease.


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.


age related macular degeneration 12

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene.


name: type II complement component 8 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8B 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.


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.


3p- syndrome

description: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


retinitis pigmentosa 20

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene.


aneurysm-osteoarthritis syndrome

description: Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.


Meier-Gorlin syndrome 2

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.


retinitis pigmentosa 40

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene.


Meier-Gorlin syndrome 3

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene.


Meier-Gorlin syndrome 4

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.


Meier-Gorlin syndrome 5

description: Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.


primary sclerosing cholangitis

description: Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.


primary ciliary dyskinesia 14

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene.


primary ciliary dyskinesia 15

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.


retinitis pigmentosa 39

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


retinitis pigmentosa 43

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene.


pontocerebellar hypoplasia type 2D

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


congenital bile acid synthesis defect 3

description: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.


asphyxiating thoracic dystrophy 4

description: An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.


nephronophthisis 12

description: Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.


Seckel syndrome 5

description: Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.


nephronophthisis 9

description: Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene.


complement component 9 deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene.


Leber congenital amaurosis 6

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene.


retinitis pigmentosa 48

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene.


name: generalized epilepsy with febrile seizures plus, type 8


Leber congenital amaurosis 7

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


name: congenital stationary night blindness 1D

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene.


name: multisystemic smooth muscle dysfunction syndrome

description: Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals.


Leber congenital amaurosis 8

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene.


Leber congenital amaurosis 11

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.


hypertrophic cardiomyopathy 16

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.


name: constitutional megaloblastic anemia with severe neurologic disease


Leber congenital amaurosis 15

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.


name: hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


osteogenesis imperfecta type 10

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.


osteogenesis imperfecta type 12

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene.


inosine triphosphatase deficiency

description: An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.


name: congenital heart defects, multiple types, 6

description: Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 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.


achromatopsia 4

description: Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene.


name: immunodeficiency due to ficolin3 deficiency


retinitis pigmentosa 59

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


retinitis pigmentosa 38

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


name: generalized epilepsy with febrile seizures plus, type 7

description: Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene.


name: autosomal recessive nonsyndromic hearing loss 61

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene.


name: fatal infantile hypertonic myofibrillar myopathy


name: Hirschsprung disease, cardiac defects, and autonomic dysfunction


hypertrophic cardiomyopathy 17

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.


hypertrophic cardiomyopathy 18

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


hypertrophic cardiomyopathy 19

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene.


hypertrophic cardiomyopathy 20

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


name: PLIN1-related familial partial lipodystrophy


dilated cardiomyopathy 1HH

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


chromosome 13q14 deletion syndrome

description: Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.


Meckel syndrome, type 8

description: Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene.


name: obesity, hyperphagia, and developmental delay


cataract 36

description: Any cataract in which the cause of the disease is a mutation in the TDRD7 gene.


spinocerebellar ataxia type 35

description: Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis.


spinocerebellar ataxia type 32

description: Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males.


name: recurrent Neisseria infections due to factor D deficiency


name: lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


name: autosomal recessive nonsyndromic hearing loss 89

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


name: megalencephalic leukoencephalopathy with subcortical cysts 2A


name: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


name: alopecia-intellectual disability syndrome 3


name: autosomal recessive congenital ichthyosis 8

description: Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the LIPN gene.


schizophrenia 15

description: A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33.


Fanconi anemia complementation group P

description: Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.


name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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


name: amyloidosis, primary localized cutaneous, 2


candidiasis, familial, 6

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17F gene.


spermatogenic failure 8

description: Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.


spermatogenic failure 9

description: Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.


schizophrenia 16

description: A schizophrenia that has material basis in a mutation on chromosome 7q36.3.


name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


name: intellectual disability, autosomal dominant 6

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene.


name: melanoma, cutaneous malignant, susceptibility to, 6


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


atrial fibrillation, familial, 9

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene.


hypotrichosis 3

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


osteogenesis imperfecta type 6

description: Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene.


retinitis pigmentosa 60

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene.


beta-thalassemia HBB/LCRB

description: Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype.


name: pituitary hormone deficiency, combined, 6

description: Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene.


name: dyskeratosis congenita, autosomal recessive 2

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.


name: dyskeratosis congenita, autosomal recessive 3

description: A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1.


name: dyskeratosis congenita, autosomal dominant 2

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.


name: dyskeratosis congenita, autosomal dominant 3

description: A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.


primary ciliary dyskinesia 16

description: Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.


progressive myoclonic epilepsy type 6

description: Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene.


lissencephaly 4

description: Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene.


name: intellectual disability, autosomal recessive 14

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


name: catecholaminergic polymorphic ventricular tachycardia 3

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


atrial fibrillation, familial, 10

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene.


PSPH deficiency

description: 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome.


name: hyperlipidemia due to hepatic triglyceride lipase deficiency

description: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated.


name: hydroxyacyl glutathione hydrolase deficiency


name: autosomal recessive nonsyndromic hearing loss 29

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene.


name: hypotonia-failure to thrive-microcephaly syndrome

description: Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.


deafness-lymphedema-leukemia syndrome

description: Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


name: complex cortical dysplasia with other brain malformations 1

description: Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.


Moyamoya disease 5

description: Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene.


atrial fibrillation, familial, 11

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene.


atrial fibrillation, familial, 12

description: Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2

description: A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.


name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3

description: Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene.


name: distal myopathy with posterior leg and anterior hand involvement

description: Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.


hereditary spastic paraplegia 47

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


hereditary spastic paraplegia 52

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene.


name: immunodeficiency-centromeric instability-facial anomalies syndrome 2

description: Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.


psoriasis 13, susceptibility to

description: Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


Hermansky-Pudlak syndrome 3

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


Hermansky-Pudlak syndrome 4

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.


Hermansky-Pudlak syndrome 5

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


Hermansky-Pudlak syndrome 6

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene.


Hermansky-Pudlak syndrome 7

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 8

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


name: chondrodysplasia with joint dislocations, gPAPP type


name: multiple congenital anomalies-hypotonia-seizures syndrome 1

description: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.


Fanconi anemia complementation group G

description: Fanconi anemia caused by mutations of the FANCG gene.


Fanconi anemia complementation group L

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


atrial septal defect 3

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene.


name: sick sinus syndrome 3, susceptibility to

description: Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene.


name: short-rib thoracic dysplasia 7 with or without polydactyly

description: An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.


name: combined oxidative phosphorylation defect type 8

description: Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.


acatalasia

description: A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide.


cranioectodermal dysplasia 3

description: Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.


name: recurrent infections associated with rare immunoglobulin isotypes deficiency

description: Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG subclass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections.


Lipedema

description: Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.


name: DYRK1A-related intellectual disability syndrome

description: An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.


name: methylmalonate semialdehyde dehydrogenase deficiency


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: intellectual disability, autosomal dominant 2

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene.


mosaic variegated aneuploidy syndrome 2

description: Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene.


name: hereditary sensory neuropathy-deafness-dementia syndrome

description: A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.


hydrolethalus syndrome 2

description: Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.


name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

description: A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.


Perrault syndrome 3

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


focal segmental glomerulosclerosis 6

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene.


Stickler syndrome, type 4

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene.


epiphyseal dysplasia, multiple, 6

description: Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.


nonsyndromic congenital nail disorder 9

description: Deformity or discoloration of a fingernail or toenail.


name: autosomal dominant nonsyndromic hearing loss 64

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


spinocerebellar ataxia type 36

description: Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.


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.


platelet-type bleeding disorder 14

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.


myostatin-related muscle hypertrophy

description: Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.


name: autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome

description: Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.


insomnia

description: A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep.


paragangliomas 5

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


myopia 21, autosomal dominant

description: Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene.


brittle cornea syndrome 2

description: Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.


Hermansky-Pudlak syndrome 9

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


name: monocytopenia with susceptibility to infections


Joubert syndrome 13

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene.


Meckel syndrome, type 10

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


retinitis pigmentosa 61

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


retinitis pigmentosa 62

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


geleophysic dysplasia 2

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.


Leber congenital amaurosis 16

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.


name: hypertelorism-preauricular sinus-punctual pits-deafness syndrome


name: pigmented nodular adrenocortical disease, primary, 3

description: Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.


name: craniofacial anomalies and anterior segment dysgenesis syndrome


nephrotic syndrome, type 6

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


congenital myasthenic syndrome 16

description: Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.


description: LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal.


platelet-type bleeding disorder 9

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene.


platelet-type bleeding disorder 11

description: Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene.


Rafiq syndrome

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.


Parkinson disease 17

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


psoriasis 14, pustular

description: Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene.


3M syndrome 3

description: Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene.


name: hyperphosphatasia with intellectual disability syndrome 3

description: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.


name: intellectual disability, autosomal recessive 16


Meckel syndrome, type 9

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


name: autosomal dominant nonsyndromic hearing loss 33

description: An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34.


name: encephalopathy, acute, infection-induced, susceptibility to, 4

description: Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene.


neuropathy, hereditary sensory, type 2C

description: Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.


Adams-Oliver syndrome 2

description: Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene.


Warburg micro syndrome 3

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.


Warburg micro syndrome 2

description: Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene.


holoprosencephaly 11

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


name: hyperuricemic nephropathy, familial juvenile type 3


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene.


name: autosomal recessive spinocerebellar ataxia 11

description: Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene.


chromosome 8q21.11 deletion syndrome

description: Heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.


familial progressive hyperpigmentation

description: Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


hypotrichosis 9

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3.


hypotrichosis 10

description: A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3.


name: intellectual disability, autosomal recessive 18

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene.


narcolepsy 7

description: Any narcolepsy in which the cause of the disease is a mutation in the MOG gene.


name: Parkinson disease 18, autosomal dominant, susceptibility to

description: Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.


name: intellectual disability, autosomal dominant 8

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.


name: intellectual disability, autosomal dominant 9

description: An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.


name: intellectual disability, autosomal dominant 10

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene.


name: intellectual disability, autosomal dominant 11

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene.


description: An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.


name: arthrogryposis, Perthes disease, and upward gaze palsy


name: combined malonic and methylmalonic acidemia

description: Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline.


Barrett esophagus

description: Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)


name: platelet-activating factor acetylhydrolase deficiency

description: Reduced level of platelet-activating factor acetylhydrolase.


name: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


name: epilepsy, juvenile myoclonic, susceptibility to, 9


Stickler syndrome, type 5

description: Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.


tetrasomy 18p

description: Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.


name: breast-ovarian cancer, familial, susceptibility to, 4

description: Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene.


name: myopia, high, with cataract and vitreoretinal degeneration


hydatidiform mole, recurrent, 2

description: Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.


Wolfram-like syndrome

description: Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.


name: neurodegeneration with brain iron accumulation 4

description: Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.


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.


name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant

description: Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene.


EDICT syndrome

description: EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.


sclerosteosis 2

description: Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.


name: cognitive impairment with or without cerebellar ataxia


description: A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.


pancreatic cancer, susceptibility to, 4

description: Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 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.


name: autosomal recessive spinocerebellar ataxia 12

description: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.


name: linear and whorled nevoid hypermelanosis

description: Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


ovarian dysgenesis 3

description: Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.


Pitt-Hopkins-like syndrome 2

description: Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene.


Feingold syndrome type 2

description: Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.


description: BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.


name: inflammatory skin and bowel disease, neonatal, 1

description: Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene.


name: intellectual disability, autosomal recessive 31


name: colorectal cancer, hereditary nonpolyposis, type 6

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.


name: intellectual disability, autosomal recessive 29


Lynch syndrome 4

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene.


name: pancreatic triacylglycerol lipase deficiency

description: An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.


name: intellectual disability, autosomal recessive 27

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.


name: intellectual disability, autosomal recessive 33


name: intellectual disability, autosomal recessive 30


name: intellectual disability, autosomal recessive 19


name: intellectual disability, autosomal recessive 23


name: intellectual disability, autosomal recessive 24


name: intellectual disability, autosomal recessive 25


name: intellectual disability, autosomal recessive 28


Lynch syndrome 5

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene.


name: peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


name: surfactant metabolism dysfunction, pulmonary, 5

description: Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.


amyotrophic lateral sclerosis type 16

description: Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene.


asphyxiating thoracic dystrophy 5

description: Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.


nephronophthisis 13

description: A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.


complement component 4b deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


complement component 4a deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.


name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism

description: Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene.


bacteremia, susceptibility to, 1

description: Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene.


bacteremia, susceptibility to, 2

description: Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene.


name: colorectal cancer, hereditary nonpolyposis, type 7

description: Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.


name: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


name: pregnancy loss, recurrent, susceptibility to, 1

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene.


name: pregnancy loss, recurrent, susceptibility to, 2

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene.


name: pregnancy loss, recurrent, susceptibility to, 3

description: Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene.


graft versus host disease

description: An immune system disorder that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.


microphthalmia, syndromic 11

description: Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.


name: microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

description: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.


hereditary spastic paraplegia 46

description: A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.


name: autosomal recessive nonsyndromic hearing loss 96

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13.


chilblain lupus 2

description: Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.


name: lethal occipital encephalocele-skeletal dysplasia syndrome

description: Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.


familial temporal lobe epilepsy 5

description: A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13.


name: autosomal systemic lupus erythematosus type 16

description: An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3.


cataract 37

description: A cataract that has material basis in variation in the region 12q24.2-q24.3.


Joubert syndrome 14

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.


ventricular septal defect 1

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


atrioventricular septal defect 4

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


ventricular septal defect 2

description: Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene.


ventricular septal defect 3

description: Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene.


atrial septal defect 8

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene.


cutis laxa, autosomal dominant 2

description: Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene.


hypoplastic left heart syndrome 2

description: Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene.


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

description: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.


name: cutis laxa, autosomal recessive, type 1B

description: An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.


PYCR1-related de Barsy syndrome

description: Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene.


name: hypertrophic osteoarthropathy, primary, autosomal recessive, 2

description: Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene.


congenital nongoitrous hypothyroidism 6

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


name: Charcot-Marie-Tooth disease dominant intermediate E

description: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.


name: melanoma, cutaneous malignant, susceptibility to, 8

description: An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer.


name: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


name: childhood encephalopathy due to thiamine pyrophosphokinase deficiency


lipoic acid synthetase deficiency

description: Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person.


Joubert syndrome 15

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene.


Joubert syndrome 16

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene.


name: coronary heart disease, susceptibility to, 6

description: Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene.


name: familial cold autoinflammatory syndrome 3

description: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.


name: autoimmune lymphoproliferative syndrome type 4

description: RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.


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.


atrioventricular septal defect 5

description: Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene.


atrial septal defect 9

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene.


name: transient infantile hypertriglyceridemia and hepatosteatosis


porencephaly 2

description: Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.


trigonocephaly 2

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.


spastic ataxia 5

description: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.


pseudohypoaldosteronism type 2B

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.


pseudohypoaldosteronism type 2C

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.


Wiskott-Aldrich syndrome 2

description: Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.


retinitis pigmentosa 63

description: A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.


pseudohypoaldosteronism type 2D

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.


pseudohypoaldosteronism type 2E

description: Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene.


name: microphthalmia, isolated, with coloboma 7

description: Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene.


name: neonatal-onset encephalopathy with rigidity and seizures


name: intellectual disability, autosomal recessive 34

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


cone-rod dystrophy 16

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


name: psychomotor retardation, epilepsy, and craniofacial dysmorphism


Usher syndrome type 3B

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


name: DDOST-congenital disorder of glycosylation

description: DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).


mirror movements 2

description: Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene.


name: thrombophilia due to protein S deficiency, autosomal recessive


intracerebral hemorrhage

description: Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma.


name: encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency


thrombocythemia 3

description: Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene.


fibrochondrogenesis 2

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


chromosome 17q12 duplication syndrome

description: 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.


chromosome 17q12 deletion syndrome

description: 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.


name: Ehlers-Danlos syndrome, kyphoscoliotic type, 2

description: A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.


name: developmental and epileptic encephalopathy, 13

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.


description: Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms.


name: leukoencephalopathy with calcifications and cysts


name: intellectual disability, autosomal dominant 13

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.


name: familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


name: congenital stationary night blindness 1E

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.


Maffucci syndrome

description: Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


name: COG6-ongenital disorder of glycosylation


name: combined oxidative phosphorylation defect type 9

description: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


Baraitser-winter syndrome 2

description: Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene.


dystonia 21

description: Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia.


preeclampsia/eclampsia 5

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


trichohepatoenteric syndrome 2

description: Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.


name: intellectual disability, autosomal dominant 14

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene.


name: intellectual disability, autosomal dominant 15

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene.


name: intellectual disability, autosomal dominant 16

description: Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.


name: acrodysostosis 2 with or without hormone resistance

description: Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.


name: autosomal dominant nonsyndromic hearing loss 4B

description: Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene.


Joubert syndrome 17

description: Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene.


congenital diarrhea 6

description: Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene.


name: autosomal recessive nonsyndromic hearing loss 86

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


hyperekplexia 3

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.


hyperekplexia 2

description: Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.


UV-sensitive syndrome 2

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene.


UV-sensitive syndrome 3

description: Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7

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


name: familial steroid-resistant nephrotic syndrome with sensorineural deafness


description: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.


coenzyme Q10 deficiency, primary, 3

description: Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.


name: hereditary sensory and autonomic neuropathy type 6

description: Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST 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.


cortisone reductase deficiency 2

description: Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency.


name: intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency

description: Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene.


auriculocondylar syndrome 2

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.


name: peripartum cardiomyopathy, susceptibility to


chromosome 16p11.2 duplication syndrome

description: Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.


dilated cardiomyopathy 2B

description: Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 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.


name: autosomal dominant aplasia and myelodysplasia


hypertrophic cardiomyopathy 21

description: A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.


pontocerebellar hypoplasia type 1B

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.


primary ciliary dyskinesia 17

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


name: hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


pontine tegmental cap dysplasia

description: Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation.


cataract 38

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


description: Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function.


name: combined immunodeficiency due to LRBA deficiency