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Article

Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.

Journal of medical genetics - 21 Mar 2024

Koene Saskia, Ropers Fabiënne Gwendolin, Wieland Jannelien, Rybak Tamara, Wildschut Floor, Berghuis Dagmar, Morgan Angela, Trelles Maria Pilar, Scheepe Jeroen Ronald, Bökenkamp Regina, Peeters-Scholte Cacha M P C D, Braden Ruth, Santen Gijs W E

Abstract excerpt

BACKGROUND: The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications. METHODS: Patients...

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Source

Identifiers

PMID: 38123995
DOI: 10.1136/jmg-2023-109537

Genes

FOXP1

Provenance

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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