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General Information
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| Term |
intellectual disability-severe speech delay-mild dysmorphism syndrome |
ID (Ontology) |
DOID:0111331 (Human Disease) |
| 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. |
| Also Known As |
"FOXP1 Haploinsufficiency" ; "FOXP1 syndrome" ; "FOXP1-Related Neurodevelopmental Disorder" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | 1 | for disease ribbon | intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | -- | model of | intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | -- |
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Relationships