Leukodystrophy, Hypomyelinating, 12 (HLD12)

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OMIM 57 616683 Disease Ontology 12 DOID:0060796 Orphanet 59 ORPHA466934

MedGen 42 C4225247 CN234869 MeSH 44 D020279 SNOMED-CT via HPO 69 258211005 397732007 398064005 271611007 103276001 15188001 343087000 95828007 60700002 76976005 228156007 247578003 91138005 221360009 397790002 224958001 95646004 203598005 385522000 55033002 57048009 7890003 88565003 276617005 444896005 59576002 14760008 225595004 204043002 41497008 4103001 19393004 202264009 276710001 13164000 62211000119103 135810007 413924001 68574006 more

OMIM : ⁵⁷ Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616683)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 12, is also known as hld12. An important gene associated with Leukodystrophy, Hypomyelinating, 12 is VPS11 (VPS11, CORVET/HOPS Core Subunit). Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and spasticity

Disease Ontology : ¹² 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.

UniProtKB/Swiss-Prot : ⁷⁵ Leukodystrophy, hypomyelinating, 12: 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.

Clinical features from OMIM:

616683

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