Term Name: | hypomyelinating leukodystrophy 19 |
---|---|
Synonyms: | HLD19 |
Definition: | A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. |
Ontology: | Human Disease [DOID:0070400] ( DOID:0070400 ) |