ADAT3‐related intellectual disability: Further delineation of the phenotype

In this report, we present additional 15 individuals from 11 families (10 Saudis and 1 Emirati) who are homozygous for the same founder mutation. In addition to the universal findings of intellectual disability and strabismus, the majority exhibited microcephaly and growth failure. Additional features not reported in the original cohort include dysmorphic facial features (prominent forehead, up‐slanted palpebral fissures, epicanthus, and depressed nasal bridge), behavioral problems (hyperactivity and aggressiveness), recurrent otitis media, and growth hormone deficiency. ADAT3‐related intellectual disability is an important recognizable cause of intellectual disability in Arabia. © 2016 Wiley Periodicals, Inc.

Source: American Journal of Medical Genetics Part A - February 3, 2016 Category: Genetics & Stem Cells Authors: Ayman W. El‐Hattab, Mohammed A. Saleh, Amal Hashem, Mohammed Al‐Owain, Ali Al Asmari, Hala Rabei, Hanem Abdelraouf, Mais Hashem, Anas M. Alazami, Nisha Patel, Ranad Shaheen, Eissa A. Faqeih, Fowzan S. Alkuraya Tags: Research Article Source Type: research