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Metadata
ID	DOID:0060796
Name	hypomyelinating leukodystrophy 12
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. https://www.ncbi.nlm.nih.gov/pubmed/26307567, https://www.ncbi.nlm.nih.gov/pubmed/27120463
Xrefs	OMIM:616683
Synonyms	HLD12 [EXACT]
Parent Relationships	is_a hypomyelinating leukodystrophy is_a autosomal recessive disease