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Menke-Hennekam syndrome 2

Summary

Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. Although mutations in the same gene cause Rubinstein-Taybi syndrome-2 (RSTS2; 613684), patients with MKHK1 do not resemble the striking phenotype of RSTS2. For a discussion of genetic heterogeneity of Menke-Hennekam syndrome, see MKHK1 (618332). [from OMIM]

Available tests

16 tests are in the database for this condition.

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Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KAT3B, MKHK2, RSTS2, p300, EP300
    Summary: E1A binding protein p300

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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