SLI2
MCID: SPC028
MIFTS: 14

Specific Language Impairment 2 (SLI2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Specific Language Impairment 2

MalaCards integrated aliases for Specific Language Impairment 2:

Name: Specific Language Impairment 2 57 70
Specific Language Impairment Qtl, 2 57 13
Specific Language Impairment Quantitative Trait Locus on Chromosome 19 57
Language Impairment, Specific, Type 2 39
Sli2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
multifactorial

Miscellaneous:
phenotypic variation (may affect language expression, reception, and/or articulation)
prevalence of 2-7% in english-speaking preschool children
genetic heterogeneity (see, e.g., sli1 )


HPO:

31
specific language impairment 2:
Inheritance multifactorial inheritance heterogeneous


Classifications:



External Ids:

OMIM® 57 606712
OMIM Phenotypic Series 57 PS606711
MedGen 41 C1847605
SNOMED-CT via HPO 68 229734008 62305002
UMLS 70 C1847605

Summaries for Specific Language Impairment 2

MalaCards based summary : Specific Language Impairment 2, also known as specific language impairment qtl, 2, is related to specific language impairment. An important gene associated with Specific Language Impairment 2 is SLI2 (Specific Language Impairment QTL, 2). Related phenotypes are expressive language delay and language impairment

More information from OMIM: 606712 PS606711

Related Diseases for Specific Language Impairment 2

Diseases in the Specific Language Impairment family:

Specific Language Impairment 1 Specific Language Impairment 2
Specific Language Impairment 3 Specific Language Impairment 4
Specific Language Impairment 5

Diseases related to Specific Language Impairment 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 specific language impairment 11.1

Symptoms & Phenotypes for Specific Language Impairment 2

Human phenotypes related to Specific Language Impairment 2:

31 (showing 4, show less)
# Description HPO Frequency HPO Source Accession
1 expressive language delay 31 HP:0002474
2 language impairment 31 HP:0002463
3 deficit in phonologic short-term memory 31 HP:0002549
4 deficit in nonword repetition 31 HP:0002526

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
deficit in phonologic short-term memory
normal intelligence
language development deficit
no other neurologic deficits
deficit in nonword repetition (nwr)
more

Clinical features from OMIM®:

606712 (Updated 20-May-2021)

Drugs & Therapeutics for Specific Language Impairment 2

Search Clinical Trials , NIH Clinical Center for Specific Language Impairment 2

Genetic Tests for Specific Language Impairment 2

Anatomical Context for Specific Language Impairment 2

Publications for Specific Language Impairment 2

Articles related to Specific Language Impairment 2:

(showing 3, show less)
# Title Authors PMID Year
1
Highly significant linkage to the SLI1 locus in an expanded sample of individuals affected by specific language impairment. 57
15133743 2004
2
A genomewide scan identifies two novel loci involved in specific language impairment. 57
11791209 2002
3
Assessment of pragmatic difficulties and socio-emotional adjustment in practice. 61
16195198 2005

Variations for Specific Language Impairment 2

Expression for Specific Language Impairment 2

Search GEO for disease gene expression data for Specific Language Impairment 2.

Pathways for Specific Language Impairment 2

GO Terms for Specific Language Impairment 2

Sources for Specific Language Impairment 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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