OBO ID: DOID:0060793 |
Term Name: | hypomyelinating leukodystrophy 5 | Search Ontology: | |
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Definition: | A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (2) | ||
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Ontology: | Human Disease ( DOID:0060793 ) |
OTHER hypomyelinating leukodystrophy 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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