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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

Summary

Autosomal recessive intellectual developmental disorder-75 with neuropsychiatric features and variant lissencephaly (MRT75) is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development. Most affected individuals have behavioral abnormalities, including aggression and ADHD; a few have psychiatric manifestations, including psychosis. More variable additional features include well-controlled seizures and dysmorphic facial features. Brain imaging often shows frontal predominant pachygyria or other gyri/sulci abnormalities, consistent with a variant of lissencephaly and a malformation of cortical development (MCD) (summary by Zaki et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: LRDD, MRT75, PIDD, PIDD1
    Summary: p53-induced death domain protein 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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