MCID: INT228
MIFTS: 12

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 58

Characteristics:

Orphanet epidemiological data:

58
intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


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 Subunit 11). Related phenotypes are intellectual disability and scoliosis

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

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

Human phenotypes related to Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
3 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
4 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
5 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
6 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
7 limb-girdle muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006785
8 myalgia 58 31 frequent (33%) Frequent (79-30%) HP:0003326
9 progressive proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009073
10 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
11 truncal ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002078
12 exercise-induced muscle fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0009020
13 hyperkinetic movements 58 31 frequent (33%) Frequent (79-30%) HP:0002487
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000545
16 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
17 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
18 infantile muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008947
19 right ventricular dilatation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005133
20 seizure 31 occasional (7.5%) HP:0001250
21 seizures 58 Occasional (29-5%)

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

Search Clinical Trials , 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 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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