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 )

Relationships
is a type of: autosomal dominant disease hypomyelinating leukodystrophy