Term Name: | intellectual disability-severe speech delay-mild dysmorphism syndrome |
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Synonyms: | FOXP1 Haploinsufficiency, FOXP1 syndrome, FOXP1-Related Neurodevelopmental Disorder, Mental retardation with language impairment and with or without autistic features |
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. |
Ontology: | Human Disease [DOID:0111331] ( DOID:0111331 ) |