name: familial hemophagocytic lymphohistiocytosis 5

description: Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.


aniridia 3

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

description: Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene.


name: mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

description: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.


Charcot-Marie-Tooth disease type 2R

description: Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene.


glutaric acidemia type 3

description: Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.


description: A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.


orofacial cleft 10

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


name: neuronopathy, distal hereditary motor, type 9


name: neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


name: developmental and epileptic encephalopathy, 18


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


cataract 43

description: Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene.


description: Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene.


hyper-IgM syndrome type 5

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


name: bleeding disorder, platelet-type, 13, susceptibility to


C syndrome

description: C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.


amyotrophic lateral sclerosis type 10

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


name: familial hemophagocytic lymphohistiocytosis 3

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


name: herpes simplex encephalitis, susceptibility to, 1

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the UNC93B1 gene.


familial hypertryptophanemia

description: Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.


name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2

description: Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.


autosomal recessive osteopetrosis 8

description: Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.


name: arrhythmogenic right ventricular dysplasia 5

description: Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 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.


Waardenburg syndrome type 2E

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


Waardenburg syndrome type 4C

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10.


PCWH syndrome

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


hereditary spastic paraplegia 4

description: Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.


atrial conduction disease

description: Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted.


retinitis pigmentosa 31

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


preeclampsia/eclampsia 4

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


Matthew-Wood syndrome

description: Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia.


X-linked Opitz G/BBB syndrome

description: X-linked form of Opitz G/BBB syndrome.


mitochondrial DNA depletion syndrome 9

description: Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated.


intellectual disability, X-linked 101

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene.


name: micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome


name: spinal muscular atrophy with congenital bone fractures 1

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene.


name: congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome


achondrogenesis type IA

description: Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.


name: combined oxidative phosphorylation defect type 27

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene.


premature ovarian failure 12

description: Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.


spermatogenic failure 15

description: Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene.


name: neurodevelopmental disorder with microcephaly, ataxia, and seizures


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


name: neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy


name: Charcot-Marie-Tooth disease dominant intermediate C

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


name: myopathy, lactic acidosis, and sideroblastic anemia 2

description: Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 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.


acral peeling skin syndrome

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


name: thyroid hormone resistance, generalized, autosomal dominant


name: thyroid hormone resistance, generalized, autosomal recessive

description: A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum.


name: selective pituitary resistance to thyroid hormone

description: Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.


name: susceptibility to angioedema induced by ACE inhibitors

description: An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema.


atrial septal defect 6

description: Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene.


name: combined oxidative phosphorylation defect type 30

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1

description: Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene.


OPTN-related open angle glaucoma

description: Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.


lissencephaly 8

description: Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene.


name: congenital isolated adrenocorticotropic hormone deficiency

description: A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland.


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.


beta-ketothiolase deficiency

description: Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence.


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.


thrombophilia due to thrombin defect

description: The formation of a blood clot (thrombus) in the lumen of a vein.


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: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 15


hemochromatosis type 3

description: Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.


Camurati-Engelmann disease

description: Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


X-linked retinoschisis

description: A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.


name: Dyskeratosis Congenita, Autosomal Dominant 3

description: Dyskeratosis congenita caused by autosomal dominant mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. Mutations in TINF2 may also lead to another phenotype known as Revesz syndrome (Dyskeratosis Congenita, Autosomal Dominant 5).


REVESZ SYNDROME (disorder)

description: An autosomal dominant form of dyskeratosis congenita, caused by mutation(s) in the TINF2 gene, encoding TERF1-interacting nuclear factor 2. It is a fatal disease associated with exudative retinopathy and bone marrow failure.


semantic dementia

description: Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.


Pick disease

description: A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.


supranuclear palsy, progressive, 1

description: Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.


name: progressive supranuclear palsy-parkinsonism syndrome

description: PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease.


name: Leber congenital amaurosis with early-onset deafness


pelviscapular dysplasia

description: Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.


name: short-rib thoracic dysplasia 17 with or without polydactyly


name: autosomal dominant nonsyndromic hearing loss 56

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


description: X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted.


thyroid dyshormonogenesis 3

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


name: autoimmune thyroid disease, susceptibility to, 3


spinocerebellar ataxia type 17

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


Treacher Collins syndrome 1

description: Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.


name: Ehlers-Danlos syndrome due to tenascin-X deficiency


vesicoureteral reflux 8

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


holoprosencephaly 4

description: A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.


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


distal myopathy, Welander type

description: Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.


name: autosomal dominant slowed nerve conduction velocity

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


Wolfram syndrome 2

description: Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene.


name: epilepsy, idiopathic generalized, susceptibility to, 11

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


name: leukoencephalopathy with mild cerebellar ataxia and white matter edema

description: An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.


acrokeratosis verruciformis

description: A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows.


Darier disease

description: Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.


name: neonatal ichthyosis-sclerosing cholangitis syndrome

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


name: cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4

description: Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene.


name: autosomal recessive nonsyndromic hearing loss 103

description: Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene.


name: spinocerebellar ataxia, autosomal recessive 25


neuronal ceroid lipofuscinosis 5

description: Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


ceroid lipofuscinosis, neuronal, 6A

description: A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


name: ceroid lipofuscinosis, neuronal, 6B (Kufs type)

description: Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene.


geleophysic dysplasia 1

description: Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.


neuropathy, hereditary sensory, type 1F

description: Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.


ataxia telangiectasia

description: Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterized by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.


dentatorubral-pallidoluysian atrophy

description: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.


renal hypomagnesemia 2

description: Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


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.


Wilson disease

description: A very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.


description: Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy.


Bohring-Opitz syndrome

description: Bohring-Opitz syndrome is characterized by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.


Bartter disease type 3

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


Bartter disease type 4B

description: A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes.


migraine, familial hemiplegic, 2

description: Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene.


alternating hemiplegia of childhood 1

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene.


Brody myopathy

description: Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder.


autosomal recessive osteopetrosis 4

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


autosomal dominant osteopetrosis 2

description: A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).


name: renal hypomagnesemia 5 with ocular involvement

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.


name: congenital short bowel syndrome, autosomal recessive


pontocerebellar hypoplasia type 10

description: Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene.


hereditary spastic paraplegia 3A

description: Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 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.


Menkes disease

description: A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


occipital horn syndrome

description: Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.


description: X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.


hyperlipoproteinemia type 3

description: Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.


Alzheimer disease 2

description: An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.


sea-blue histiocyte syndrome

description: A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.


retinitis pigmentosa 55

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


name: microcephaly 5, primary, autosomal recessive

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


name: microcephaly 3, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.


name: combined oxidative phosphorylation defect type 7

description: Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life.


congenital myasthenic syndrome 6

description: Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.


candidiasis, familial, 4

description: Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene.


name: severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


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.


achromatopsia 7

description: Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.


name: ectopia lentis 2, isolated, autosomal recessive

description: An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.


name: persistent hyperplastic primary vitreous, autosomal recessive

description: Autosomal recessive form of persistent hyperplastic primary vitreous.


name: ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

description: A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


name: intellectual disability, autosomal dominant 52


Niemann-Pick disease type A

description: Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.


Niemann-Pick disease type B

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


name: congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

description: An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.


osteoarthritis susceptibility 3

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


citrullinemia type I

description: Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).


dystonia 12

description: Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.


alternating hemiplegia of childhood 2

description: Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene.


name: cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

description: Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.


renal hypomagnesemia 3

description: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.


Cayman type cerebellar ataxia

description: Cerebellar ataxia, Cayman type is characterized by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia.


Harel-Yoon syndrome

description: A syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy.


macular corneal dystrophy

description: Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment.


mucopolysaccharidosis type 6

description: Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.


name: intellectual disability, autosomal dominant 45


psoriasis 13, susceptibility to

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


candidiasis, familial, 8

description: Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene.


name: spinal muscular atrophy with congenital bone fractures 2

description: Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene.


aspartylglucosaminuria

description: Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

description: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.


ventricular septal defect 2

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


temtamy preaxial brachydactyly syndrome

description: An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.


name: spondyloepiphyseal dysplasia with congenital joint dislocations

description: CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.


name: Ehlers-Danlos syndrome, musculocontractural type 1

description: An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.


Oguchi disease-1

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


retinitis pigmentosa 47

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


description: X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.


name: developmental and epileptic encephalopathy, 1

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


Partington syndrome

description: A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.


name: intellectual disability, X-linked, with or without seizures, arx-related


name: corpus callosum agenesis-abnormal genitalia syndrome

description: Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.


familial hypobetalipoproteinemia 2

description: Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene.


hyperargininemia

description: Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.


name: neurodevelopmental disorder with midbrain and hindbrain malformations


peeling skin syndrome type A

description: Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin.


name: metachromatic leukodystrophy, juvenile form

description: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.


name: autosomal recessive nonsyndromic hearing loss 48

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


Usher syndrome type 1J

description: Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.


X-linked chondrodysplasia punctata 1

description: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


name: developmental and epileptic encephalopathy, 38

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene.


name: CIDEC-related familial partial lipodystrophy


Farber lipogranulomatosis

description: A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.


name: spinal muscular atrophy-progressive myoclonic epilepsy syndrome

description: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.


name: intellectual developmental disorder, autosomal recessive 74

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the APC2 gene.


Hermansky-Pudlak syndrome 2

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


butyrylcholinesterase deficiency

description: Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterized by prolonged apnoea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.


B-cell chronic lymphocytic leukemia

description: B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.


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.


Greig cephalopolysyndactyly syndrome

description: Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.


Pallister-Hall syndrome

description: Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.


polydactyly, postaxial, type A1

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


polysyndactyly 4

description: Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


name: alacrima, achalasia, and intellectual disability syndrome


auriculocondylar syndrome 1

description: Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene.


pseudohypoparathyroidism type 1A

description: A type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).


McCune-Albright syndrome

description: McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


pseudohypoparathyroidism type 1C

description: A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).


familial multiple nevi flammei

description: A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


achromatopsia 4

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


Tourette syndrome

description: A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.


name: rhizomelic chondrodysplasia punctata type 2

description: Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.


mucolipidosis type II

description: Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


mucolipidosis type III, alpha/beta

description: Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.


GNPTG-mucolipidosis

description: A very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.


name: chondrodysplasia with joint dislocations, gPAPP type


geroderma osteodysplastica

description: Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.


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.


name: glycosylphosphatidylinositol biosynthesis defect 15

description: A rare, genetic, syndromic intellectual disability characterized by global developmental delay, early-onset seizures, cerebellar atrophy, osteopenia, nystagmus and dysmorphic facial features, including bitemporal narrowing, prominent forehead, anteverted nares. Dysarthria, dysmetria, ataxic gait, spasticity and dysmorphic features have also been associated.


autosomal recessive omodysplasia

description: Autosomal recessive form of omodysplasia.


nephronophthisis 2

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


primary hyperoxaluria type 2

description: Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis.


name: neurodevelopmental disorder with or without seizures and gait abnormalities


name: autosomal recessive spinocerebellar ataxia 18

description: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.


name: autosomal recessive spinocerebellar ataxia 13

description: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.


intellectual disability, X-linked 21

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene.


name: craniofacial dysplasia - osteopenia syndrome


name: ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


name: ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


name: ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant


name: ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


name: X-linked hypohidrotic ectodermal dysplasia

description: An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


tooth agenesis, selective, X-linked, 1

description: Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene.


name: intellectual disability, autosomal recessive 50

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.


name: mandibulofacial dysostosis with alopecia

description: A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.


Waardenburg syndrome type 4A

description: A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.


name: Hirschsprung disease, susceptibility to, 2

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


ABCD syndrome

description: An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB).


Charcot-Marie-Tooth disease type 4A

description: Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.


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


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

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


name: Charcot-Marie-Tooth disease recessive intermediate A

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


name: 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.


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


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.


intellectual disability, X-linked 41

description: Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene.


name: Hirschsprung disease, susceptibility to, 3


juvenile myoclonic epilepsy

description: Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).


name: epilepsy, juvenile absence, susceptibility to, 1


Alexander disease

description: Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.


platelet-type bleeding disorder 17

description: An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.


long QT syndrome 6

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


atrial fibrillation, familial, 4

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


arterial tortuosity syndrome

description: Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.


name: developmental and epileptic encephalopathy, 40

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene.


name: glycogen storage disorder due to hepatic glycogen synthase deficiency

description: Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.


name: spastic paraplegia-severe developmental delay-epilepsy syndrome

description: Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.


name: mitochondrial DNA depletion syndrome, myopathic form

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


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

description: Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene.


name: developmental and epileptic encephalopathy, 24

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene.


name: megalencephalic leukoencephalopathy with subcortical cysts 2A


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


Gaucher disease type I

description: Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.


Gaucher disease type II

description: Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.


Gaucher disease type III

description: Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.


name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

description: Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.


Gaucher disease perinatal lethal

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


name: herpes simplex encephalitis, susceptibility to, 7

description: A Mendelian susceptibility or predisposition to herpes simplex infection induced encephalitis in which the cause of the diseas is a mutation in the IRF3 gene.


Rahman syndrome

description: Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}).


beta-thalassemia HBB/LCRB

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


sickle cell anemia

description: Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.


dominant beta-thalassemia

description: Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia.


name: lethal congenital contracture syndrome 11

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


glomuvenous malformation

description: Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.


Bernard-Soulier syndrome

description: Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.


name: multiple mitochondrial dysfunctions syndrome 5


name: short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


name: combined oxidative phosphorylation defect type 23

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene.


pulmonary hypertension, primary, 4

description: Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene.


dehydrated hereditary stomatocytosis 2

description: Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.


seizures, benign familial neonatal, 1

description: Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 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.


retinitis pigmentosa 48

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


cone dystrophy 3

description: Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene.


name: glycogen storage disease due to glycogen branching enzyme deficiency

description: Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.


adult polyglucosan body disease

description: Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia.


D-glyceric aciduria

description: A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


Temple-Baraitser syndrome

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


Zimmermann-Laband syndrome 1

description: Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.


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.


long QT syndrome 1

description: An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.


Jervell and Lange-Nielsen syndrome 1

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.


atrial fibrillation, familial, 3

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


short QT syndrome type 2

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


Leber congenital amaurosis 1

description: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.


cone-rod dystrophy 6

description: Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


choroidal dystrophy, central areolar, 1

description: Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene.


progressive myoclonic epilepsy type 3

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


name: hypogonadotropic hypogonadism 13 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene.


name: congenital brain dysgenesis due to glutamine synthetase deficiency


name: syndromic X-linked intellectual disability 94

description: A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.


name: intellectual disability, autosomal recessive 6

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


immunodeficiency 39

description: Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene.


name: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency

description: A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG).


immunodeficiency 32B

description: A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV.


inflammatory bowel disease 19

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


name: multiple mitochondrial dysfunctions syndrome 4

description: Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene.


name: autosomal dominant nonsyndromic hearing loss 5

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


spinocerebellar ataxia type 19/22

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


Brugada syndrome 9

description: Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene.


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

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


encephalopathy due to GLUT1 deficiency

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


name: childhood onset GLUT1 deficiency syndrome 2

description: A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.


name: epilepsy, idiopathic generalized, susceptibility to, 12


dystonia 9

description: A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.


name: hereditary cryohydrocytosis with reduced stomatin


name: glycogen storage disease due to GLUT2 deficiency

description: Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.


name: hypogonadotropic hypogonadism 15 with or without anosmia

description: Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.


cutaneous mastocytosis

description: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


name: sick sinus syndrome 2, autosomal dominant

description: Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene.


Brugada syndrome 8

description: Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene.


name: hyperinsulinemic hypoglycemia, familial, 4

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


name: methylmalonic acidemia with homocystinuria, type cblX


Huntington disease

description: Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia.


X-linked erythropoietic protoporphyria

description: X-linked form of erythropoietic protoporphyria.


name: congenital heart defects, multiple types, 5


dilated cardiomyopathy 2B

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


name: neonatal diabetes mellitus with congenital hypothyroidism

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


holoprosencephaly 9

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


name: postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

description: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


glycogen storage disease XV

description: Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle.


polyglucosan body myopathy type 2

description: Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.


Joubert syndrome 7

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


Meckel syndrome, type 5

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


cortisone reductase deficiency 1

description: Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. 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 11-beta HSD type 1 deficiency.


name: anemia, nonspherocytic hemolytic, due to G6PD deficiency

description: Any nonspherocytic hemolytic anemia in which the cause of the disease is a variation in the G6PD gene resulting in severely decreased activity levels of the enzyme glucose-6-phosphate dehydrogenase. Individuals with hemizygous G6PD variants associated with chronic nonspherocytic hemolytic anemia (CNSHA) have CNSHA. Individuals with G6PD variants that cause CNSHA are at risk for acute hemolytic anemia in response to certain medication exposures, chemical exposures, infections, or consumption of fava beans.


GABA aminotransaminase deficiency

description: Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.


name: polycystic kidney disease 3 with or without polycystic liver disease

description: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene.


hyperekplexia 1

description: A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.


polycystic liver disease 1

description: A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver.


name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


name: muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


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

description: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


name: developmental and epileptic encephalopathy, 17

description: Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.


name: neurodevelopmental disorder with involuntary movements


cataract 13 with adult I phenotype

description: A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.


X-linked recessive ocular albinism

description: X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.


vitelliform macular dystrophy 4

description: Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.


name: hypogonadotropic hypogonadism 12 with or without anosmia

description: A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.


progressive myoclonic epilepsy type 6

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


name: pituitary adenoma, growth hormone-secreting, 2

description: Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene.


name: nonarteritic anterior ischemic optic neuropathy, susceptibility to


name: Bernard-Soulier syndrome, type A2, autosomal dominant

description: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.


platelet-type von Willebrand disease

description: A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia.


Brugada syndrome 2

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


name: transient infantile hypertriglyceridemia and hepatosteatosis


type 1 diabetes mellitus 2

description: An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene.


name: maturity-onset diabetes of the young type 10

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


name: autosomal recessive nonsyndromic hearing loss 26

description: An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31.


name: lethal congenital contracture syndrome 1

description: Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.


name: lethal arthrogryposis-anterior horn cell disease syndrome


tooth agenesis, selective, 9

description: Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene.


van der Woude syndrome 2

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


name: autosomal dominant nonsyndromic hearing loss 28

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


name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

description: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


name: corneal dystrophy, posterior polymorphous, 4


name: congenital stationary night blindness 1B

description: Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.


inflammatory bowel disease 14

description: Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene.


name: systemic lupus erythematosus, susceptibility to, 10

description: Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene.


van der Woude syndrome 1

description: Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene.


name: autosomal dominant popliteal pterygium syndrome

description: Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.


orofacial cleft 6, susceptibility to

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


description: Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported.


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.


short QT syndrome type 1

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


Bartter disease type 2

description: Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.


long QT syndrome 13

description: Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 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.


Birk-Barel syndrome

description: Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).


Simpson-Golabi-Behmel syndrome type 1

description: Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.


name: congenital muscular dystrophy with cataracts and intellectual disability

description: A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.


name: short-rib thoracic dysplasia 20 with polydactyly

description: Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).


Jervell and Lange-Nielsen syndrome 2

description: Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.


long QT syndrome 5

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


sialuria

description: Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.


GNE myopathy

description: Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.


glycine N-methyltransferase deficiency

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


mucopolysaccharidosis type 3D

description: A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.


name: intellectual disability, autosomal recessive 59

description: Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene.