Leukodystrophy, Hypomyelinating, 11

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OMIM 57 616494 Disease Ontology 12 DOID:0060792 ICD10 33 G11.1

MedGen 42 C4225305 CN231734 MeSH 44 D020279 SNOMED-CT via HPO 69 258211005 422775003 57190000 228156007 247578003 91138005 85102008 221360009 397790002 224958001 95646004 26079004 204043002 192781003 more

OMIM : ⁵⁷ Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. (616494)

MalaCards based summary : Leukodystrophy, Hypomyelinating, 11, is also known as hld11. An important gene associated with Leukodystrophy, Hypomyelinating, 11 is POLR1C (RNA Polymerase I And III Subunit C). Affiliated tissues include brain, and related phenotypes are abnormality of the dentition and myopia

UniProtKB/Swiss-Prot : ⁷⁵ Leukodystrophy, hypomyelinating, 11: An autosomal recessive neurologic disorder characterized by brain hypomyelination, delayed psychomotor development, intellectual disability, tremor and other neurologic symptoms. Some patients may additionally manifest non-neurologic features, particularly dental abnormalities and hypogonadotropic hypogonadism.

Disease Ontology : ¹² A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has material basis in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

Clinical features from OMIM:

616494

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