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intellectual disability-severe speech delay-mild dysmorphism syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0111331
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
