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GTR Home > Conditions/Phenotypes > Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Synonyms
Arboleda-Tham syndrome; KAT6A syndrome; Mental retardation, autosomal dominant 32
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019). [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARTHS, MOZ, MRD32, MYST-3, MYST3, RUNXBP2, ZC2HC6A, ZNF220, KAT6A
    Summary: lysine acetyltransferase 6A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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