MCID: INT228
MIFTS: 5

Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

MalaCards integrated aliases for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome:

Name: Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA369847
ICD10 via Orphanet 34 G71.0

Summaries for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

MalaCards based summary : Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome An important gene associated with Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome is TRAPPC11 (Trafficking Protein Particle Complex 11).

Related Diseases for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Symptoms & Phenotypes for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Drugs & Therapeutics for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome

Genetic Tests for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Anatomical Context for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Publications for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Variations for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Expression for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Search GEO for disease gene expression data for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome.

Pathways for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

GO Terms for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

Sources for Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia...

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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