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hypomyelinating leukodystrophy 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
Uniprot Description An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0014732:  hypomyelinating leukodystrophy 12
Orphanet:466934: 
UMLS:C4225247: