Term Name:	hypomyelinating leukodystrophy 12
Synonyms:	HLD12
Definition:	A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
Ontology:	Human Disease [DOID:0060796]   ( DOID:0060796 )