MCID: TRR002
MIFTS: 5

Trio-Related Intellectual Disability

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Trio-Related Intellectual Disability

MalaCards integrated aliases for Trio-Related Intellectual Disability:

Name: Trio-Related Intellectual Disability 25

Characteristics:

GeneReviews:

25
Penetrance Information available is insufficient to allow conclusions regarding the penetrance of trio pathogenic variants. based on the family reported by pengelly et al [2016], some degree of intrafamilial clinical variability can be seen. variable expressivity may lead to underascertainment of mildly affected individuals and possibly explain the presence (on rare occasions) of individuals harboring presumably pathogenic variants in trio in control population-based cohorts such as the exome aggregation consortium (exac) [lek et al 2016]...

Classifications:



Summaries for Trio-Related Intellectual Disability

MalaCards based summary : Trio-Related Intellectual Disability

GeneReviews: NBK447257

Symptoms & Phenotypes for Trio-Related Intellectual Disability

Drugs & Therapeutics for Trio-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Trio-Related Intellectual Disability

Genetic Tests for Trio-Related Intellectual Disability

Anatomical Context for Trio-Related Intellectual Disability

Publications for Trio-Related Intellectual Disability

Variations for Trio-Related Intellectual Disability

Expression for Trio-Related Intellectual Disability

Search GEO for disease gene expression data for Trio-Related Intellectual Disability.

Pathways for Trio-Related Intellectual Disability

GO Terms for Trio-Related Intellectual Disability

Sources for Trio-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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