Visualize Submit Comment

Metadata
ID	DOID:0070405
Name	hypomyelinating leukodystrophy 16
Definition	A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. https://pubmed.ncbi.nlm.nih.gov/29186371/
Xrefs	MIM:617964
Synonyms	HLD16 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a hypomyelinating leukodystrophy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance