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speech-language disorder-1
Summary
- Synonym
-
- CAS
- articulatory apraxia
- childhood apraxia of speech
- developmental apraxia of speech
- developmental verbal dyspraxia
- speech and language disorder with orofacial dyspraxia
- speech-language disorder type 1
- Definition
- A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1.
- Super Class
- autosomal dominant disease speech disorder
External Links
- Disease Ontology
- DOID:0111275
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2194 | FASN | fatty acid synthase | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 3956 | LGALS1 | galectin 1 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 |
Related Glycoprotein
