hypomyelinating leukodystrophy 14 (DOID:0080296)
Alliance: disease page
Alt IDs: OMIM:617899
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.