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Article

Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.

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

Burkart Sebastian, Spanjaard Melanie, Kaufmann Lilian, Hinderhofer Katrin, Schaaf Christian P, Ries Markus, Hempel Maja

Abstract excerpt

KDM1A-related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra-rare autosomal dominant disorder is limited. Here, we report on a 13-year-old boy with a novel heterozygous, likely pathogenic germline missense variant in exon 16 of KDM1A with developmental delay, hypotonia, mild...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40530541
DOI: 10.1002/ajmg.a.64144

Genes

KDM1A

Provenance

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