Term Name: | hypomyelinating leukodystrophy 14 |
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Synonyms: | |
Definition: | A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. |
Ontology: | Human Disease [DOID:0080296] ( DOID:0080296 ) |