Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly (MRT34)

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OMIM 56 614499 OMIM Phenotypic Series 56 PS249500 MeSH 43 D008607

MedGen 41 C3281044 SNOMED-CT via HPO 68 128613002 162294008 19410003 204036008 228156007 229721007 23024003 246545002 247578003 258211005 29164008 313307000 62415009 84757009 91138005 91175000 more UMLS 71 C3281044

UniProtKB/Swiss-Prot : ⁷³ 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 seizure and intellectual disability

OMIM : ⁵⁶ 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.