MCID: XLN132
MIFTS: 5

X-Linked Intellectual Disability, Schimke Type

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Schimke Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Schimke Type:

Name: X-Linked Intellectual Disability, Schimke Type 54
Choreoathetosis with Mental Retardation X- Linked 54

Classifications:



Summaries for X-Linked Intellectual Disability, Schimke Type

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85285Disease definitionX-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked.Visit the Orphanet disease page for more resources.

MalaCards based summary : X-Linked Intellectual Disability, Schimke Type, also known as choreoathetosis with mental retardation x- linked, is related to schimke x-linked mental retardation syndrome.

Related Diseases for X-Linked Intellectual Disability, Schimke Type

Diseases related to X-Linked Intellectual Disability, Schimke Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 schimke x-linked mental retardation syndrome 11.5

Symptoms & Phenotypes for X-Linked Intellectual Disability, Schimke Type

Drugs & Therapeutics for X-Linked Intellectual Disability, Schimke Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Schimke Type

Genetic Tests for X-Linked Intellectual Disability, Schimke Type

Anatomical Context for X-Linked Intellectual Disability, Schimke Type

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Variations for X-Linked Intellectual Disability, Schimke Type

Expression for X-Linked Intellectual Disability, Schimke Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Schimke Type.

Pathways for X-Linked Intellectual Disability, Schimke Type

GO Terms for X-Linked Intellectual Disability, Schimke Type

Sources for X-Linked Intellectual Disability, Schimke Type

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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