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Article

Further phenotypic delineation of Alazami syndrome.

American journal of medical genetics. Part A - 1 Aug 2022

Al-Hinai Abdulhamid, Al-Hashmi Samiya, Ganesh Anuradha, Al-Hashmi Nadia, Al-Saegh Abeer, Al-Mamari Watfa, Al-Murshedi Fathiya, Al-Thihli Khalid, Al-Kindi Adila, Al-Maawali Almundher

Abstract excerpt

Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the LARP7, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are <35 reported cases in the literature. All reported cases share the same three...

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Identifiers

PMID: 35567578
DOI: 10.1002/ajmg.a.62778

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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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