MCID: XLN132
MIFTS: 13

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 52
Choreoathetosis with Mental Retardation X- Linked 52

Classifications:



Summaries for X-Linked Intellectual Disability, Schimke Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85285 Definition X-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. Affiliated tissues include eye, and related phenotypes are intellectual disability and spasticity

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 11.7

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

Human phenotypes related to X-Linked Intellectual Disability, Schimke Type:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 frequent (33%) HP:0001249
2 spasticity 31 frequent (33%) HP:0001257
3 hearing impairment 31 frequent (33%) HP:0000365
4 global developmental delay 31 frequent (33%) HP:0001263
5 dyskinesia 31 frequent (33%) HP:0100660
6 short stature 31 frequent (33%) HP:0004322
7 absent speech 31 frequent (33%) HP:0001344
8 failure to thrive in infancy 31 frequent (33%) HP:0001531
9 infantile muscular hypotonia 31 frequent (33%) HP:0008947
10 poor suck 31 frequent (33%) HP:0002033
11 choreoathetosis 31 frequent (33%) HP:0001266
12 external ophthalmoplegia 31 frequent (33%) HP:0000544
13 poor head control 31 frequent (33%) HP:0002421
14 postnatal microcephaly 31 frequent (33%) HP:0005484
15 high palate 31 occasional (7.5%) HP:0000218
16 hyperreflexia 31 occasional (7.5%) HP:0001347
17 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
18 narrow nasal bridge 31 occasional (7.5%) HP:0000446
19 elbow flexion contracture 31 occasional (7.5%) HP:0002987
20 deeply set eye 31 occasional (7.5%) HP:0000490
21 hydronephrosis 31 occasional (7.5%) HP:0000126
22 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
23 hip contracture 31 occasional (7.5%) HP:0003273
24 knee flexion contracture 31 occasional (7.5%) HP:0006380
25 gastrostomy tube feeding in infancy 31 occasional (7.5%) HP:0011471
26 ankle flexion contracture 31 occasional (7.5%) HP:0006466

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

MalaCards organs/tissues related to X-Linked Intellectual Disability, Schimke Type:

40
Eye

Publications for X-Linked Intellectual Disability, Schimke Type

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
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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