U.S. flag

An official website of the United States government

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.