MCID: XLN212
MIFTS: 9

X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

MalaCards integrated aliases for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome:

Name: X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-ataxia-apraxia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G31.8
Orphanet 58 ORPHA85338

Summaries for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

MalaCards based summary : X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome Related phenotypes are ataxia and intellectual disability, mild

Related Diseases for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Symptoms & Phenotypes for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Human phenotypes related to X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002186
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762

Drugs & Therapeutics for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Genetic Tests for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Anatomical Context for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Publications for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Variations for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Expression for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome.

Pathways for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

GO Terms for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

Sources for X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome

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
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