MCID: SPC028
MIFTS: 13

Specific Language Impairment 2

Categories: Genetic diseases, Mental diseases

Aliases & Classifications for Specific Language Impairment 2

MalaCards integrated aliases for Specific Language Impairment 2:

Name: Specific Language Impairment 2 57 73
Specific Language Impairment Qtl, 2 57 13
Specific Language Impairment Quantitative Trait Locus on Chromosome 19 57
Sli2 57

Characteristics:

OMIM:

57
Inheritance:
multifactorial

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


HPO:

32
specific language impairment 2:
Inheritance heterogeneous multifactorial inheritance


Classifications:



External Ids:

OMIM 57 606712
MedGen 42 C1847605
SNOMED-CT via HPO 69 62305002 229734008
UMLS 73 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 language impairment and expressive language delay

Description from OMIM: 606712

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:

# Related Disease Score Top Affiliating Genes
1 specific language impairment 11.2

Symptoms & Phenotypes for Specific Language Impairment 2

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

606712

Human phenotypes related to Specific Language Impairment 2:

32
# Description HPO Frequency HPO Source Accession
1 language impairment 32 HP:0002463
2 expressive language delay 32 HP:0002474
3 deficit in nonword repetition 32 HP:0002526
4 deficit in phonologic short-term memory 32 HP:0002549

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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