loading...| Preferred Name | SPEECH-LANGUAGE DISORDER 1 | |
| Synonyms |
CAS SPCH1 CHILDHOOD APRAXIA OF SPEECH SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA DVD DEVELOPMENTAL VERBAL DYSPRAXIA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/602081 |
|
| altLabel |
CAS SPCH1 CHILDHOOD APRAXIA OF SPEECH SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA DVD DEVELOPMENTAL VERBAL DYSPRAXIA |
|
| cui |
C0750927 C5441570 |
|
| Gene Locus |
7q31 |
|
| Gene Symbol |
CAGH44 TNRC10 FOXP2 SPCH1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU005575 http://purl.bioontology.org/ontology/OMIM/MTHU005579 http://purl.bioontology.org/ontology/OMIM/MTHU005569 http://purl.bioontology.org/ontology/OMIM/MTHU005570 http://purl.bioontology.org/ontology/OMIM/MTHU005573 http://purl.bioontology.org/ontology/OMIM/MTHU005572 http://purl.bioontology.org/ontology/OMIM/MTHU005578 http://purl.bioontology.org/ontology/OMIM/MTHU005576 http://purl.bioontology.org/ontology/OMIM/MTHU005577 http://purl.bioontology.org/ontology/OMIM/MTHU002197 http://purl.bioontology.org/ontology/OMIM/MTHU005568 http://purl.bioontology.org/ontology/OMIM/MTHU005574 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
300045 |
|
| notation |
602081 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SPEECH-LANGUAGE DISORDER 1 |
|
| Scope Statement |
Genetic heterogeneity for phenotypically similar disorders with specific language impairment (SLI1 606711, SLI2 606712, SLI3 607134) [MISCELLANEOUS] This specific disorder has been described in 1 family (KE) [MISCELLANEOUS] Caused by mutation in the forkhead box P2 gene (FOXP2, 605317.0001) [MOLECULAR BASIS] See also familial developmental dysphasia (600117) [MISCELLANEOUS] |
|
| tui |
T048 |