Term Name:	hypomyelinating leukodystrophy 14
Synonyms:
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.
Ontology:	Human Disease [DOID:0080296]   ( DOID:0080296 )