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GTR Home > Conditions/Phenotypes > Intellectual developmental disorder, autosomal recessive 78

Intellectual developmental disorder, autosomal recessive 78

Summary

Autosomal recessive intellectual developmental disorder-78 (MRT78) is a neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Affected individuals have microcephaly and mild short stature. Additional features may include ocular abnormalities and mild skeletal defects (Haag et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BRWD2, DR11, HH14, SRI1, WDR15, WDR11
    Summary: WD repeat domain 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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