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Article

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 -Related Developmental Disorders.

American journal of medical genetics. Part A - 1 Jul 2026

Warmoeskerken Tinne, Theunis Miel, Van den Bogaert Kris, Devriendt Koenraad, Breckpot Jeroen

Abstract excerpt

The rare X-linked female-restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired. HDKR is caused by heterozygous frameshift, splice or nonsense variants in the MED12 gene. Besides HDKR, MED12 pathogenic variants cause a...

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Source

Identifiers

PMID: 41821414
DOI: 10.1002/ajmg.a.70122

Genes

MED12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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