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Microcephaly, small cerebellar vermis, holoprosencephaly, agenesis of corpus callosum, intellectual disability, short stature, skeletal dysplasia, microphthalmia\u2013anophthalmia, and sex reversal constitute the phenotypic spectrum of this condition with variable expression. We report an additional family with three affected conceptuses: two abortuses and one living proband. We did proband\u2013parents trio exome sequencing and identified a biallelic in\u2010frame deletion c.365_367del; (p.Thr122del) in exon 5 of <jats:italic>HHAT<\/jats:italic>. With this report, we delineate the phenotype and allelic heterogeneity of the <jats:italic>HHAT<\/jats:italic>\u2010related multiple congenital anomaly syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62186","type":"journal-article","created":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T13:25:22Z","timestamp":1616419522000},"page":"2756-2765","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Hedgehog acyl\u2010transferase\u2010related multiple congenital anomalies: Report of an additional family and delineation of the syndrome"],"prefix":"10.1002","volume":"185","author":[{"given":"Shruti","family":"Pande","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education  Manipal 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