Metadata | |
---|---|
ID | DOID:0070400 |
Name | hypomyelinating leukodystrophy 19 |
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. https://pubmed.ncbi.nlm.nih.gov/33785861/, https://pubmed.ncbi.nlm.nih.gov/31587869/ |
Xrefs | |
Synonyms |
HLD19 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |