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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly

Summary

Autosomal recessive intellectual developmental disorder-80 with variant lissencephaly (MRT80) is characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Speech delay and motor abnormalities, such as hypotonia, may also be present. Brain imaging shows lissencephaly with pachygyria and mild cortical thickening in the frontotemporal lobes (Uctepe et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CASP-2, ICH1, MRT80, NEDD-2, NEDD2, PPP1R57, CASP2
    Summary: caspase 2

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