4123
(4.0%)

mitochondrial DNA depletion syndrome 1

Sensorineural hearing impairment

Autosomal recessive inheritance

4123
(4.0%)

coenzyme Q10 deficiency, primary, 1

Glomerular sclerosis

Autosomal recessive inheritance

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

4123
(4.0%)

succinic semialdehyde dehydrogenase deficiency

Abnormality of eye movement

Autosomal recessive inheritance

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation.

4123
(4.0%)

ornithine translocase deficiency

Chorioretinal atrophy

Autosomal recessive inheritance

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.

4123
(4.0%)

Niemann-Pick disease, type C1

Vertical supranuclear gaze palsy

Autosomal recessive inheritance Heterogeneous

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

4123
(4.0%)

X-linked spinocerebellar ataxia type 3

Sensorineural hearing impairment

X-linked recessive inheritance

X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.

4123
(4.0%)

metachromatic leukodystrophy, juvenile form

Urinary incontinence

Autosomal recessive inheritance

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.

4123
(4.0%)

mitochondrial complex III deficiency nuclear type 2

Hearing impairment

Autosomal recessive inheritance

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene.

4123
(4.0%)

immunodeficiency due to CD25 deficiency

Diabetes mellitus

Autosomal recessive inheritance

4123
(4.0%)

autoimmune lymphoproliferative syndrome type 3

Nephrotic syndrome

Autosomal recessive inheritance

A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.