OBO ID: DOID:0060794 |
Term Name: | hypomyelinating leukodystrophy 7 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060794 ) |
OTHER hypomyelinating leukodystrophy 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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