hypomyelinating leukodystrophy 12

Term ID

DOID:0060796

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

• OMIM:616683

Ontology

Human Disease   ( DOID:0060796 )