4123
(4.0%)

immunodeficiency 25

Eosinophilia

Autosomal recessive inheritance

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

4123
(4.0%)

autism, susceptibility to, 3

Autism

Heterogeneous Multifactorial inheritance Sporadic

4123
(4.0%)

autism, susceptibility to, X-linked 2

Autism

X-linked inheritance Heterogeneous Multifactorial inheritance Sporadic

A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations).

4123
(4.0%)

spinocerebellar ataxia type 19/22

Dysarthria

Autosomal dominant inheritance

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.

4123
(4.0%)

intellectual disability, autosomal recessive 53

Delayed speech and language development

Autosomal recessive inheritance

4123
(4.0%)

encephalopathy due to prosaposin deficiency

Optic atrophy

Autosomal recessive inheritance

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

4123
(4.0%)

spinocerebellar ataxia type 23

Slow saccadic eye movements

Autosomal dominant inheritance

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

4123
(4.0%)

neuronal ceroid lipofuscinosis 4A

Depressivity

Autosomal recessive inheritance

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

4123
(4.0%)

autosomal dominant optic atrophy, classic form

Strabismus

Autosomal dominant inheritance

Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.

4123
(4.0%)

Leber congenital amaurosis 1

Sensorineural hearing impairment

Autosomal recessive inheritance

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

4123
(4.0%)

pyruvate carboxylase deficiency disease

Intellectual disability

Autosomal recessive inheritance

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.

4123
(4.0%)

intellectual disability, autosomal recessive 58

Aggressive behavior

Autosomal recessive inheritance

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene.

4123
(4.0%)

cardiac valvular dysplasia, X-linked

Mitral valve prolapse

X-linked inheritance X-linked recessive inheritance

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 7

Nystagmus

Autosomal recessive inheritance

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

4123
(4.0%)

X-linked progressive cerebellar ataxia

Strabismus

X-linked inheritance X-linked recessive inheritance

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 14

Hypometric saccades

Autosomal recessive inheritance

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

4123
(4.0%)

obesity due to CEP19 deficiency

Azoospermia

Autosomal recessive inheritance

4123
(4.0%)

spinocerebellar ataxia type 28

Ptosis

Autosomal dominant inheritance

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

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Sensorineural hearing impairment

Autosomal dominant inheritance

An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

4123
(4.0%)

developmental and epileptic encephalopathy, 37

Nystagmus

Autosomal recessive inheritance

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene.

4123
(4.0%)

autosomal recessive ataxia, Beauce type

Nystagmus

Autosomal recessive inheritance

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

4123
(4.0%)

congenital secretory chloride diarrhea 1

Hyperactive renin-angiotensin system

Autosomal recessive inheritance

Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene.

4123
(4.0%)

acyl-CoA dehydrogenase 9 deficiency

Generalized hypotonia

Autosomal recessive inheritance

Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 16

Ptosis

Autosomal recessive inheritance

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 10

External ophthalmoplegia

Autosomal recessive inheritance

4123
(4.0%)

sickle cell anemia

Renal insufficiency

Autosomal recessive inheritance

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.

4123
(4.0%)

maple syrup urine disease

Hallucinations

Autosomal recessive inheritance

An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.

4123
(4.0%)

semantic dementia

Hyperorality

Autosomal dominant inheritance Heterogeneous

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.

4123
(4.0%)

carbamoyl phosphate synthetase I deficiency disease

Irritability

Autosomal recessive inheritance

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

4123
(4.0%)

Norrie disease

Sensorineural hearing impairment

X-linked recessive inheritance

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

4123
(4.0%)

episodic ataxia type 2

Tinnitus

Autosomal dominant inheritance

Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

4123
(4.0%)

fatal familial insomnia

Urinary retention

Autosomal dominant inheritance

Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

4123
(4.0%)

MPI-CDG

Hyperinsulinemic hypoglycemia

Autosomal recessive inheritance

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

4123
(4.0%)

holocarboxylase synthetase deficiency

Irritability

Autosomal recessive inheritance

Holocarboxylase synthetase (HCS) deficiency is a life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma.

4123
(4.0%)

nephronophthisis 2

Nephronophthisis

Autosomal recessive inheritance

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

4123
(4.0%)

classic galactosemia

Cataract

Autosomal recessive inheritance

Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease.

4123
(4.0%)

paragangliomas 3

Episodic paroxysmal anxiety

Autosomal dominant inheritance

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

4123
(4.0%)

oculocutaneous albinism type 1A

Astigmatism

Autosomal recessive inheritance

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

4123
(4.0%)

neuronal ceroid lipofuscinosis 4B

Depressivity

Autosomal dominant inheritance

A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

4123
(4.0%)

spinocerebellar ataxia type 13

Hearing impairment

Autosomal dominant inheritance

Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

4123
(4.0%)

lipoyl transferase 1 deficiency

Global developmental delay

Autosomal recessive inheritance

4123
(4.0%)

developmental and epileptic encephalopathy, 72

Astigmatism

Autosomal dominant inheritance

4123
(4.0%)

spinocerebellar ataxia, autosomal recessive 26

Nystagmus

Autosomal recessive inheritance

4123
(4.0%)

autosomal dominant Alport syndrome

Renal insufficiency

Autosomal dominant inheritance

Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell.

4123
(4.0%)

ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Strabismus

Autosomal recessive inheritance

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

4123
(4.0%)

adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Sensorineural hearing impairment

Autosomal recessive inheritance

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

4123
(4.0%)

hyperprolinemia type 1

Aggressive behavior

Autosomal recessive inheritance

Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2).

4123
(4.0%)

aldosterone-producing adenoma with seizures and neurological abnormalities

Nephrolithiasis

Autosomal dominant inheritance

4123
(4.0%)

developmental delay and seizures with or without movement abnormalities

Delayed speech and language development

Autosomal dominant inheritance

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}).

4123
(4.0%)

lissencephaly type 1 due to doublecortin gene mutation

Micropenis

X-linked inheritance

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients.

4123
(4.0%)

Joubert syndrome 9

Astigmatism

Autosomal recessive inheritance

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

4123
(4.0%)

myopathy, lactic acidosis, and sideroblastic anemia 2

Strabismus

Autosomal recessive inheritance

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

4123
(4.0%)

glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Renal insufficiency

X-linked recessive inheritance

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities.

4123
(4.0%)

congenital generalized lipodystrophy type 3

Primary amenorrhea

Autosomal recessive inheritance

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.

4123
(4.0%)

leukoencephalopathy, progressive, with ovarian failure

Nystagmus

Autosomal recessive inheritance

4123
(4.0%)

angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert

Emotional lability

Autosomal recessive inheritance Sporadic

4123
(4.0%)

neuronal ceroid lipofuscinosis 7

Retinopathy

Autosomal recessive inheritance

Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 33

Optic atrophy

Autosomal recessive inheritance

4123
(4.0%)

diabetes insipidus, nephrogenic, X-linked

Megacystis

X-linked recessive inheritance Heterogeneous

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 21

Strabismus

Autosomal recessive inheritance

4123
(4.0%)

juvenile onset Parkinson disease 19A

Hypometric saccades

Autosomal recessive inheritance

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

4123
(4.0%)

mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5

Delayed speech and language development

Autosomal recessive inheritance

4123
(4.0%)

glycine encephalopathy

Restlessness

Autosomal recessive inheritance

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.

4123
(4.0%)

ornithine carbamoyltransferase deficiency

Irritability

X-linked recessive inheritance

Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications.

4123
(4.0%)

X-linked adrenal hypoplasia congenita

Azoospermia

X-linked recessive inheritance

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

4123
(4.0%)

very long chain acyl-CoA dehydrogenase deficiency

Hypotonia

Autosomal recessive inheritance

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

4123
(4.0%)

Lafora disease

Visual loss

Autosomal recessive inheritance Heterogeneous

Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline.

4123
(4.0%)

right atrial isomerism (disease)

Inguinal hernia

Autosomal recessive inheritance

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.

4123
(4.0%)

3-methylglutaconic aciduria type 5

Cryptorchidism

Autosomal recessive inheritance

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

4123
(4.0%)

congenital thrombotic thrombocytopenic purpura

Proteinuria

Autosomal recessive inheritance

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

4123
(4.0%)

ethylmalonic encephalopathy

Petechiae

Autosomal recessive inheritance

Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities.

4123
(4.0%)

neuronal ceroid lipofuscinosis 9

Rod-cone dystrophy

Autosomal recessive inheritance

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

4123
(4.0%)

combined oxidative phosphorylation deficiency 28

Global developmental delay

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene.

4123
(4.0%)

hereditary motor and sensory neuropathy, Okinawa type

Sensory neuropathy

Autosomal dominant inheritance

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

4123
(4.0%)

autosomal recessive spinocerebellar ataxia 15

Nystagmus

Autosomal recessive inheritance

Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene.

4123
(4.0%)

ataxia-telangiectasia-like disorder 1

Hypometric saccades

Autosomal recessive inheritance

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

4123
(4.0%)

isolated microphthalmia 5

Rod-cone dystrophy

Autosomal recessive inheritance

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

4123
(4.0%)

mitochondrial complex 1 deficiency, nuclear type 28

Hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

3-methylcrotonyl-CoA carboxylase 1 deficiency

Intellectual disability

Autosomal recessive inheritance Heterogeneous

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.

4123
(4.0%)

developmental and epileptic encephalopathy, 50

Global developmental delay

Autosomal recessive inheritance

4123
(4.0%)

microphthalmia, isolated, with coloboma 9

Microcornea

Autosomal recessive inheritance

Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene.

4123
(4.0%)

X-linked diffuse leiomyomatosis-Alport syndrome

Proteinuria

X-linked inheritance

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

4123
(4.0%)

spasticity-ataxia-gait anomalies syndrome

Strabismus

Autosomal recessive inheritance

4123
(4.0%)

leukodystrophy, hypomyelinating, 16

Nystagmus

Autosomal dominant inheritance

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 3

Disinhibition

Autosomal dominant inheritance

An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.

4123
(4.0%)

spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Hypometric saccades

Autosomal recessive inheritance

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 5

Hepatosplenomegaly

Autosomal recessive inheritance

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

4123
(4.0%)

pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

Cirrhosis

Autosomal dominant inheritance

Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene.

4123
(4.0%)

diabetes insipidus, nephrogenic, autosomal

Megacystis

Autosomal dominant inheritance Autosomal recessive inheritance Heterogeneous

4123
(4.0%)

cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Urinary incontinence

Autosomal dominant inheritance

A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.

4123
(4.0%)

neuronal ceroid lipofuscinosis 13

Emotional lability

Autosomal recessive inheritance

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

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 4

Splenomegaly

Autosomal dominant inheritance Somatic mutation

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

4123
(4.0%)

action myoclonus-renal failure syndrome

Renal insufficiency

Autosomal recessive inheritance

Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms.

4123
(4.0%)

basal ganglia calcification, idiopathic, 7, autosomal recessive

Hypometric saccades

Autosomal recessive inheritance

4123
(4.0%)

lymphoproliferative syndrome 2

Ascites

Autosomal recessive inheritance

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.

4123
(4.0%)

Bartter disease type 3

Polyuria

Autosomal recessive inheritance

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.

4123
(4.0%)

Omenn syndrome

Hypoplasia of the thymus

Autosomal recessive inheritance

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).

4123
(4.0%)

paragangliomas 1

Conductive hearing impairment

Autosomal dominant inheritance

Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.

4123
(4.0%)

Joubert syndrome 5

Nephronophthisis

Autosomal recessive inheritance

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

4123
(4.0%)

Joubert syndrome 6

Nephronophthisis

Autosomal recessive inheritance Heterogeneous

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