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Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.

American journal of medical genetics. Part A - 1 Sept 2025

Arı Ayşe Burcu Doğan, Arı Hasan, Türkyılmaz Ayberk, Teralı Kerem, Büyükyılmaz Gönül, Erdeve Şenay Savaş, Kılıç Esra

Abstract excerpt

Nivelon-Nivelon-Mabille syndrome (NNMS, #600092) is an extremely rare genetic disorder characterized by microcephaly, central nervous system abnormalities, skeletal anomalies, and 46,XY disorders of sex development. It is caused by biallelic variants in the HHAT gene, which encodes the Hedgehog acyltransferase (HHAT) protein. To date, only eight patients with NNMS have been reported in the literature. In this...

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PMID: 40326711
DOI: 10.1002/ajmg.a.64107

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HHAT

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