|OBO ID: DOID:0060794|
|Term Name:||hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism||Search Ontology:|
|Definition:||A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (2)|
|Ontology:||Human Disease (DOID:0060794)|
|is a type of:||
OTHER hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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