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Article

A Clinical Study of Nine Patients With ReNU Syndrome.

American journal of medical genetics. Part A - 1 Nov 2025

Okamoto Nobuhiko, Nishi Eriko, Hasegawa Yuiko, Higuchi Shinji, Kuki Ichiro, Yanagi Kumiko, Kaname Tadashi, Uchiyama Yuri, Matsumoto Naomichi

Abstract excerpt

ReNU syndrome, also known as neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA), is characterized by hypotonia, global developmental delay, intellectual disability with poor or absent speech, delayed motor development, feeding difficulties, short stature, seizures, and dysmorphic features. Neuroradiological abnormalities, including ventriculomegaly,...

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Identifiers

PMID: 40546132
DOI: 10.1002/ajmg.a.64151

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Related research

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A Clinical Study of Nine Patients With ReNU Syndrome.PMID 40546132Read ↗

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Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.Semantic proximity Read ↗

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.Semantic proximity Read ↗

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Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Semantic proximity Read ↗

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.Semantic proximity Read ↗

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.Semantic proximity Read ↗

Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changesSemantic proximity Read ↗

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Semantic proximity Read ↗

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature reviewSemantic proximity Read ↗

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder.Semantic proximity Read ↗

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.Semantic proximity Read ↗

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