hypomyelinating leukodystrophy 19

Term ID

DOID:0070400

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. (2)

References

• OMIM:618688

Ontology

Human Disease   ( DOID:0070400 )