Intellectual disability-severe speech delay-mild dysmorphism syndrome
Mental retardation with language impairment and with or without autistic features is an autosomal dominant syndrome caused by mutations of the FOXP1 gene.
Carr CW et. al. (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.[^]
Hamdan FF et. al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.[^]
Le Fevre AK et. al. (2013) FOXP1 mutations cause intellectual disability and a recognizable phenotype.[^]
Srivastava S et. al. (2014) Clinical whole exome sequencing in child neurology practice.[^]
Sollis E et. al. (2016) Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.[^]
Horn D et. al. (2010) Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.[^]