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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 74

Intellectual developmental disorder, autosomal dominant 74

Summary

Autosomal dominant intellectual developmental disorder-74 (MRD74) is characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features (Niggl et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C1, C2, HNRNP, HNRPC, MRD74, SNRPC, HNRNPC
    Summary: heterogeneous nuclear ribonucleoprotein C

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