Visualize Submit Comment

Metadata
ID	DOID:0080296
Name	hypomyelinating leukodystrophy 14
Definition	A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. https://pubmed.ncbi.nlm.nih.gov/28931644/
Xrefs	OMIM:617899
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease