| Metadata | |
|---|---|
| ID | DOID:0111331 |
| Name | intellectual disability-severe speech delay-mild dysmorphism syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24214399 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
FOXP1 Haploinsufficiency [EXACT] FOXP1 syndrome [EXACT] FOXP1-Related Neurodevelopmental Disorder [EXACT] Mental retardation with language impairment and with or without autistic features [EXACT] |
| Parent Relationships |