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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal dominant 73

Intellectual developmental disorder, autosomal dominant 73

Synonyms
TAF4-RELATED NDD; TAF4-RELATED NEURODEVELOPMENTAL DISORDER

Summary

Autosomal dominant intellectual developmental disorder-73 (MRD73) is a highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features (Janssen et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MRD73, TAF(II)130, TAF(II)135, TAF2C, TAF2C1, TAF4A, TAFII-130, TAFII-135, TAFII130, TAFII135, TAF4
    Summary: TATA-box binding protein associated factor 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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