intellectual disability-severe speech delay-mild dysmorphism syndrome (DOID:0111331)
Alliance: disease page
Synonyms: FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder; Mental retardation with language impairment and with or without autistic features
Alt IDs: OMIM:613670, ORDO:391372
Definition: A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.