Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly

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OMIM 57 614499 MedGen 42 C3281044 MeSH 44 D008607

SNOMED-CT via HPO 69 258211005 162294008 229721007 29164008 62415009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 204036008 19410003 more UMLS 73 C3281044

UniProtKB/Swiss-Prot : ⁷⁵ Mental retardation, autosomal recessive 34, with variant lissencephaly: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT34 is a non-syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.

MalaCards based summary : Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly, is also known as mrt34. An important gene associated with Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly is CRADD (CASP2 And RIPK1 Domain Containing Adaptor With Death Domain). Affiliated tissues include cortex, brain and cerebellum, and related phenotypes are delayed speech and language development and intellectual disability

OMIM : ⁵⁷ MRT34 is an autosomal recessive neurologic disorder characterized by mild to moderate intellectual disability and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016). (614499)

Clinical features from OMIM:

614499

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly.