Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Disease ID: disease_node_16363
Connections displayed (default: 10).
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| Dbxref | GARD:12501, MIM:613670, ORDO:391372 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050888 |
| Data Source | DOID |
| Synonyms | FOXP1 Haploinsufficiency, FOXP1 syndrome, FOXP1-Related Neurodevelopmental Disorder, Mental retardation with language impairment and with or without autistic features |
| Doid Label | intellectual disability-severe speech delay-mild dysmorphism syndrome |
| Doid 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. |
| Has Phenotype | HP_0012758 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16363 |
| Doid Id | DOID_0111331 |
| Label | Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic Intellectual Disability(ID:disease_node_16360) (Disease)