OBO ID: DOID:0060796
Term Name: hypomyelinating leukodystrophy 12 Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0060796 )
Relationships
is a type of:
OTHER hypomyelinating leukodystrophy 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VPS11 Leukodystrophy, hypomyelinating, 12 616683
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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