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Article

ADAT3-related intellectual disability: Further delineation of the phenotype.

American journal of medical genetics. Part A - 1 May 2016

El-Hattab Ayman W, Saleh Mohammed A, Hashem Amal, Al-Owain Mohammed, Asmari Ali Al, Rabei Hala, Abdelraouf Hanem, Hashem Mais, Alazami Anas M, Patel Nisha, Shaheen Ranad, Faqeih Eissa A, Alkuraya Fowzan S

Abstract excerpt

ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. Other common features included growth failure, microcephaly, tone abnormalities, epilepsy, and nonspecific brain abnormalities. A single homozygous founder mutation (c.382G>A:p.(V128M)) in the ADAT3 gene, which encodes a protein that functions in tRNA editing,...

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Source

Identifiers

PMID: 26842963
DOI: 10.1002/ajmg.a.37578

Genes

ADAT3

Variants

Provenance

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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