MCID: ATS410
MIFTS: 7

Autosomal Dominant Intellectual Disability 49

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Intellectual Disability 49

MalaCards integrated aliases for Autosomal Dominant Intellectual Disability 49:

Name: Autosomal Dominant Intellectual Disability 49 52
Trip12 Mutations 52
Trip12 Mutation 52

Classifications:



Summaries for Autosomal Dominant Intellectual Disability 49

NIH Rare Diseases : 52 Autosomal dominant intellectual disability 49 is a rare disorder characterized by delayed neurologic development, mild intellectual disability, and learning difficulties. In many cases, autistic features or behavioral abnormalities are also present. Additional symptoms may include low muscle tone; delayed speech; seizures ; crossed eyes (strabismus); distinctive facial features (such as up-slanting palpebral fissures and a wide, down-turning mouth); and mild abnormalities of the hands or feet. No internal organ abnormalities have been described. This disorder is caused by pathogenic variants (mutations ) in the TRIP12 gene . Inheritance is autosomal dominant, but most cases are sporadic, occurring for the first time in a person with no family history of the disorder. Treatment aims to address the symptoms present in each person.

MalaCards based summary : Autosomal Dominant Intellectual Disability 49, is also known as trip12 mutations. Affiliated tissues include eye.

Symptoms & Phenotypes for Autosomal Dominant Intellectual Disability 49

Drugs & Therapeutics for Autosomal Dominant Intellectual Disability 49

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Intellectual Disability 49

Genetic Tests for Autosomal Dominant Intellectual Disability 49

Anatomical Context for Autosomal Dominant Intellectual Disability 49

MalaCards organs/tissues related to Autosomal Dominant Intellectual Disability 49:

40
Eye

Publications for Autosomal Dominant Intellectual Disability 49

Articles related to Autosomal Dominant Intellectual Disability 49:

# Title Authors PMID Year
1
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. 61
27848077 2017

Variations for Autosomal Dominant Intellectual Disability 49

Expression for Autosomal Dominant Intellectual Disability 49

Search GEO for disease gene expression data for Autosomal Dominant Intellectual Disability 49.

Pathways for Autosomal Dominant Intellectual Disability 49

GO Terms for Autosomal Dominant Intellectual Disability 49

Sources for Autosomal Dominant Intellectual Disability 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....