SPECIFIC LANGUAGE IMPAIRMENT 2
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
SPECIFIC LANGUAGE IMPAIRMENT QUANTITATIVE TRAIT LOCUS ON CHROMOSOME 19
SLI2
|
|
Number of Symptoms
|
8
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
606712
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Multifactorial
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002526)
|
Deficit in nonword repetition |
|
|
|
|
2 / 7739
|
|
2
|
(HPO:0002549)
|
Deficit in phonologic short-term memory |
|
|
|
|
2 / 7739
|
|
3
|
(HPO:0002463)
|
Language impairment |
|
|
|
|
15 / 7739
|
|
4
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0002474)
|
Expressive language delay |
|
|
|
|
8 / 7739
|
|
6
|
(OMIM)
|
No other neurologic deficits |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0001426)
|
Multifactorial inheritance |
|
|
|
|
37 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |