Human genes for hypomyelinating leukodystrophy 14
Hypomyelinating leukodystrophy 14 [DOID:0080296]
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.
Synonyms: hypomyelinating leukodystrophy 14, DOID:0080296