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Article

The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2022

Haddad-Eid Eliana, Gur Noa, Eid Sharbel, Pilowsky-Peleg Tammy, Straussberg Rachel

Abstract excerpt

AIM: To explore the cognitive and behavioral phenotype associated with a recently reported variant in endoplasmic reticulum membrane complex EMC10 c.287delG (Gly96Alafs∗9), suggested to cause a novel syndromic neurodevelopmental disorder. METHODS: Homozygous EMC10 variant identified by a combination of autozygosity mapping and exome sequencing was found in five children (aged 7-18) from a large extended family....

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Identifiers

PMID: 35124540
DOI: 10.1016/j.ejpn.2022.01.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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