Clinical spectrum of individuals with de novo EBF3 variants or deletions.

doi:10.1002/ajmg.a.62369

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Article

Clinical spectrum of individuals with de novo EBF3 variants or deletions.

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

Nishi Eriko, Uehara Tomoko, Yanagi Kumiko, Hasegawa Yuiko, Ueda Kimiko, Kaname Tadashi, Yamamoto Toshiyuki, Kosaki Kenjiro, Okamoto Nobuhiko

Abstract excerpt

Hypotonia, ataxia and delayed development syndrome (HADDS) (MIM#617330) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in EBF3 (MIM; 607,407), which is located on chromosome 10q26, and was first reported in 2017. To date, missense, nonsense and frameshift variants have been reported as causes of HADDS, and EBF3 pathogenic variants have been predicted to result in nonsense-mediated...

Topics

Adolescent
Ataxia
Child
Child, Preschool
Chromosomes, Human, Pair 10
Developmental Disabilities
Female
Frameshift Mutation
Genetic Predisposition to Disease
Haploinsufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intellectual Disability

Male

Muscle Hypotonia

Neurodevelopmental Disorders

Sequence Deletion

Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 34050706
DOI: 10.1002/ajmg.a.62369

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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