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Article

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.

European journal of medical genetics - 1 Dec 2024

Zdolšek Draksler Tanja, Bouman Arianne, Guček Alenka, Novak Erik, Burger Pauline, Colin Florent, Kleefstra Tjitske

Abstract excerpt

Kleefstra syndrome (KLEFS1) is a rare genetic neurodevelopmental disorder affecting multiple body systems. It continues to be under-researched, and its prevalence remains unknown. This paper builds on the international KLEFS1 cohort of 172 individuals based on the caregiver-reported outcomes collected within the online data collection platform GenIDA and reports the occurrence, frequency and severity of symptoms...

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Caregivers
Chromosome Deletion
Chromosomes, Human, Pair 9
Cohort Studies
Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heart Defects, Congenital

Intellectual Disability

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PMID: 39299514
DOI: 10.1016/j.ejmg.2024.104974

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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