4123
(4.0%)

Perrault syndrome 4

Hypoplasia of the uterus

Autosomal recessive inheritance

Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene.

4123
(4.0%)

inflammatory bowel disease, immunodeficiency, and encephalopathy

Seizure

Autosomal recessive inheritance

4123
(4.0%)

persistent hyperplastic primary vitreous, autosomal recessive

Microcornea

Autosomal recessive inheritance

Autosomal recessive form of persistent hyperplastic primary vitreous.

4123
(4.0%)

neuronal ceroid lipofuscinosis 5

Progressive visual loss

Autosomal recessive inheritance

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.

4123
(4.0%)

methylcobalamin deficiency type cblE

Blindness

Autosomal recessive inheritance

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.

4123
(4.0%)

ataxia-hypogonadism-choroidal dystrophy syndrome

Hypogonadotropic hypogonadism

Autosomal recessive inheritance

Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.

4123
(4.0%)

cardiac-urogenital syndrome

Cryptorchidism

Autosomal dominant inheritance

4123
(4.0%)

phosphoenolpyruvate carboxykinase deficiency, cytosolic

Optic atrophy

Autosomal recessive inheritance

PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).

4123
(4.0%)

3-methylglutaconic aciduria type 9

Urinary incontinence

Autosomal recessive inheritance

4123
(4.0%)

parkinsonism-dystonia, infantile, 1

Global developmental delay

Autosomal recessive inheritance

4123
(4.0%)

spinocerebellar ataxia type 34

Supranuclear gaze palsy

Autosomal dominant inheritance

Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes.

4123
(4.0%)

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

Hydrocephalus

Autosomal recessive inheritance

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

4123
(4.0%)

cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Dysarthria

Autosomal recessive inheritance

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 4

Disinhibition

Autosomal dominant inheritance

An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14.

4123
(4.0%)

alacrima, achalasia, and intellectual disability syndrome

Hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Optic atrophy

Autosomal recessive inheritance

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

4123
(4.0%)

episodic ataxia type 6

Hypometric saccades

Autosomal dominant inheritance

Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

4123
(4.0%)

Bardet-Biedl syndrome 16

Renal insufficiency

Autosomal recessive inheritance

Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.

4123
(4.0%)

familial hemophagocytic lymphohistiocytosis 4

Seizure

Autosomal recessive inheritance

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene.

4123
(4.0%)

dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities

Visual impairment

Autosomal recessive inheritance

4123
(4.0%)

hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia

Depressivity

Autosomal dominant inheritance

Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy.

4123
(4.0%)

McLeod neuroacanthocytosis syndrome

Depressivity

X-linked inheritance

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

4123
(4.0%)

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Lymphoma

X-linked recessive inheritance

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias.

4123
(4.0%)

hereditary myopathy with lactic acidosis due to ISCU deficiency

Muscle weakness

Autosomal recessive inheritance

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

4123
(4.0%)

malonic aciduria

Seizure

Autosomal recessive inheritance

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

4123
(4.0%)

brain-lung-thyroid syndrome

Congenital hypothyroidism

Autosomal dominant inheritance

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

4123
(4.0%)

Joubert syndrome 28

Retinopathy

Autosomal recessive inheritance

Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene.

4123
(4.0%)

methylcobalamin deficiency type cblG

Blindness

Autosomal recessive inheritance

Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.

4123
(4.0%)

heterotaxy, visceral, 7, autosomal

Atrial septal defect

Autosomal recessive inheritance

Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene.

4123
(4.0%)

neurodegeneration with brain iron accumulation 5

Abnormality of eye movement

X-linked dominant inheritance

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

4123
(4.0%)

congenital nephrotic syndrome, Finnish type

Renal insufficiency

Autosomal recessive inheritance

Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life.

4123
(4.0%)

paragangliomas 4

Episodic paroxysmal anxiety

Autosomal dominant inheritance

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

4123
(4.0%)

X-linked lymphoproliferative disease due to XIAP deficiency

Acne

X-linked inheritance X-linked recessive inheritance

A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.

4123
(4.0%)

parkinsonism-dystonia, infantile, 2

Ptosis

Autosomal recessive inheritance

4123
(4.0%)

combined oxidative phosphorylation deficiency 33

Nephrotic syndrome

Autosomal recessive inheritance

4123
(4.0%)

neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Urinary incontinence

Autosomal recessive inheritance

4123
(4.0%)

early-onset Lafora body disease

Urinary incontinence

Autosomal recessive inheritance

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

4123
(4.0%)

migraine, familial hemiplegic, 2

Blurred vision

Autosomal dominant inheritance Heterogeneous

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

4123
(4.0%)

severe neurodegenerative syndrome with lipodystrophy

Delayed speech and language development

Autosomal recessive inheritance

4123
(4.0%)

Alzheimer disease 3

Dementia

Autosomal dominant inheritance

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.

4123
(4.0%)

diarrhea 10, protein-losing enteropathy type

Cryptorchidism

Autosomal recessive inheritance

4123
(4.0%)

hypertrophic cardiomyopathy 4

Hypertrophic cardiomyopathy

Autosomal dominant inheritance Autosomal recessive inheritance

An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.

4123
(4.0%)

L-2-hydroxyglutaric aciduria

Hearing impairment

Autosomal recessive inheritance

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

4123
(4.0%)

T-B+ severe combined immunodeficiency due to gamma chain deficiency

Hypoplasia of the thymus

X-linked recessive inheritance

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

4123
(4.0%)

carnitine palmitoyl transferase 1A deficiency

Seizure

Autosomal recessive inheritance

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

4123
(4.0%)

X-linked Alport syndrome

Renal insufficiency

X-linked inheritance X-linked dominant inheritance Heterogeneous

X-linked form of Alport syndrome.

4123
(4.0%)

spinocerebellar ataxia type 7

Slow saccadic eye movements

Autosomal dominant inheritance Genetic anticipation with paternal anticipation bias

Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness.

4123
(4.0%)

citrullinemia type I

Irritability

Autosomal recessive inheritance

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).

4123
(4.0%)

methylmalonic aciduria and homocystinuria type cblD

Nystagmus

Autosomal recessive inheritance

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

4123
(4.0%)

sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Poor eye contact

Autosomal recessive inheritance

A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23.

4123
(4.0%)

spinocerebellar ataxia type 42

Urinary urgency

Autosomal dominant inheritance

4123
(4.0%)

autosomal recessive Parkinson disease 14

Supranuclear gaze palsy

Autosomal recessive inheritance

Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.

4123
(4.0%)

metachromatic leukodystrophy due to saposin b deficiency

Urinary incontinence

Autosomal recessive inheritance

4123
(4.0%)

carnitine-acylcarnitine translocase deficiency

Irritability

Autosomal recessive inheritance

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

4123
(4.0%)

encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1

Strabismus

Autosomal recessive inheritance

4123
(4.0%)

acute intermittent porphyria

Urinary retention

Autosomal dominant inheritance

Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

4123
(4.0%)

migraine, familial hemiplegic, 1

Nystagmus

Autosomal dominant inheritance Heterogeneous

4123
(4.0%)

mitochondrial trifunctional protein deficiency

Pigmentary retinopathy

Autosomal recessive inheritance

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

4123
(4.0%)

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Hypotonia

Autosomal recessive inheritance

Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.

4123
(4.0%)

Sengers syndrome

Strabismus

Autosomal recessive inheritance

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

4123
(4.0%)

Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

Hyperorality

Autosomal dominant inheritance

A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31.

4123
(4.0%)

severe X-linked mitochondrial encephalomyopathy

Seizure

X-linked recessive inheritance

Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.

4123
(4.0%)

developmental and epileptic encephalopathy, 51

Strabismus

Autosomal recessive inheritance

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.

4123
(4.0%)

hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Proteinuria

Autosomal recessive inheritance

4123
(4.0%)

optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Progressive sensorineural hearing impairment

Autosomal dominant inheritance

4123
(4.0%)

mitochondrial DNA depletion syndrome 4b

Hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Ptosis

Autosomal recessive inheritance

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene.

4123
(4.0%)

autosomal dominant Parkinson disease 1

Urinary urgency

Autosomal dominant inheritance

4123
(4.0%)

NAD(P)HX dehydratase deficiency

Hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

granulomatosis with polyangiitis

Granulomatosis

Polygenic inheritance

A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

4123
(4.0%)

hyperargininemia

Irritability

Autosomal recessive inheritance

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.

4123
(4.0%)

hereditary coproporphyria

Depressivity

Autosomal dominant inheritance Autosomal recessive inheritance

Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions.

4123
(4.0%)

developmental and epileptic encephalopathy, 4

Impaired horizontal smooth pursuit

Autosomal dominant inheritance

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.

4123
(4.0%)

adult-onset autosomal dominant demyelinating leukodystrophy

Abnormality of the urinary system

Autosomal dominant inheritance

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

4123
(4.0%)

Bartter disease type 4B

Renal insufficiency

Heterogeneous

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

4123
(4.0%)

spinocerebellar ataxia type 21

Slow saccadic eye movements

Autosomal dominant inheritance

Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

4123
(4.0%)

spinocerebellar ataxia type 10

Urinary urgency

Autosomal dominant inheritance Genetic anticipation

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

4123
(4.0%)

mitochondrial myopathy-lactic acidosis-deafness syndrome

Seizure

Autosomal recessive inheritance

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

4123
(4.0%)

frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Supranuclear gaze palsy

Autosomal dominant inheritance

Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene.

4123
(4.0%)

3-methylcrotonyl-CoA carboxylase 2 deficiency

Seborrheic dermatitis

Autosomal recessive inheritance Heterogeneous

Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene.

4123
(4.0%)

spastic ataxia 5

Ptosis

Autosomal recessive inheritance

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

4123
(4.0%)

childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Seizure

Autosomal dominant inheritance

4123
(4.0%)

peroxisome biogenesis disorder 8B

Sensorineural hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

systemic primary carnitine deficiency disease

Hypotonia

Autosomal recessive inheritance

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

4123
(4.0%)

Krabbe disease

Hydrocephalus

Autosomal recessive inheritance

Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.

4123
(4.0%)

Tay-Sachs disease AB variant

Blindness

Autosomal recessive inheritance

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

4123
(4.0%)

hemolytic uremic syndrome, atypical, susceptibility to, 1

Hypertension

Autosomal dominant inheritance Autosomal recessive inheritance

4123
(4.0%)

vitamin B12-responsive methylmalonic acidemia type cblB

Hypotonia

Autosomal recessive inheritance

An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.

4123
(4.0%)

fibrosis, neurodegeneration, and cerebral angiomatosis

Strabismus

Autosomal recessive inheritance

4123
(4.0%)

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Diabetes mellitus

X-linked recessive inheritance

Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 1

Urticaria

Autosomal dominant inheritance

4123
(4.0%)

COG8-CDG

Alternating esotropia

Autosomal recessive inheritance

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

4123
(4.0%)

argininosuccinic aciduria

Irritability

Autosomal recessive inheritance

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

4123
(4.0%)

3-methylglutaconic aciduria type 1

Urinary incontinence

Autosomal recessive inheritance

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

4123
(4.0%)

thiamine-responsive megaloblastic anemia syndrome

Cryptorchidism

Autosomal recessive inheritance

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

4123
(4.0%)

intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Esotropia

Autosomal dominant inheritance

4123
(4.0%)

periodic fever-infantile enterocolitis-autoinflammatory syndrome

Skin rash

Autosomal dominant inheritance

4123
(4.0%)

multiple mitochondrial dysfunctions syndrome 2

Visual impairment

Autosomal recessive inheritance

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

4123
(4.0%)

MELAS syndrome

Progressive sensorineural hearing impairment

Mitochondrial inheritance

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

4123
(4.0%)

congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Nephrocalcinosis

Autosomal recessive inheritance

Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.