OBO ID: DOID:0060787 |
Term Name: | hypomyelinating leukodystrophy 2 | Search Ontology: | |
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Definition: | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (2) | ||
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Ontology: | Human Disease ( DOID:0060787 ) |
OTHER hypomyelinating leukodystrophy 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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