intellectual disability-severe speech delay-mild dysmorphism syndrome
Information
- Disease name
- intellectual disability-severe speech delay-mild dysmorphism syndrome
- Disease ID
- DOID:0111331
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/24214399]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050888
- Cross Reference ID (Disease Ontology)
- GARD:12501
- Cross Reference ID (Disease Ontology)
- MIM:613670
- Cross Reference ID (Disease Ontology)
- ORDO:391372
- Exact Synonym (Disease Ontology)
- FOXP1 Haploinsufficiency
- Exact Synonym (Disease Ontology)
- FOXP1 syndrome
- Exact Synonym (Disease Ontology)
- FOXP1-Related Neurodevelopmental Disorder
- Exact Synonym (Disease Ontology)
- Mental retardation with language impairment and with or without autistic features