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Article

R3HDM1 haploinsufficiency is associated with mild intellectual disability.

American journal of medical genetics. Part A - 1 Jun 2021

Fukushi Daisuke, Inaba Mie, Katoh Kimiko, Suzuki Yasuyo, Enokido Yasushi, Nomura Noriko, Tokita Yoshihito, Hayashi Shin, Mizuno Seiji, Yamada Kenichiro, Wakamatsu Nobuaki

Abstract excerpt

R3HDM1 (R3H domain containing 1) is an uncharacterized RNA-binding protein that is highly expressed in the human cerebral cortex. We report the first case of a 12-year-old Japanese male with haploinsufficiency of R3HDM1. He presented with mild intellectual disability (ID) and developmental delay. He had a pericentric inversion of 46,XY,inv(2)(p16.1q21.3)dn with breakpoints in intron 19 of R3HDM1 (2q21.3) and the...

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Identifiers

PMID: 33750005
DOI: 10.1002/ajmg.a.62173

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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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