Article
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.
Clinical genetics - 1 Dec 2020
Umair Muhammad, Ballow Mariam, Asiri Abdulaziz, Alyafee Yusra, Al Tuwaijri Abeer, Alhamoudi Kheloud M, Aloraini Taghrid, Abdelhakim Marwa, Althagafi Azza Thamer, Kafkas Senay, Alsubaie Lamia, Alrifai Muhammad Talal, Hoehndorf Robert, Alfares Ahmed, Alfadhel Majid
Abstract excerpt
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in GDD and ID. Homozygous variants of EMC1 are associated with GDD, scoliosis, and cerebellar atrophy, indicating the relevance of this pathway for neurogenetic...
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