MCID: XLN207
MIFTS: 10

X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

MalaCards integrated aliases for X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome:

Name: X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

MalaCards based summary : X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome Related phenotypes are intellectual disability and seizures

Related Diseases for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Symptoms & Phenotypes for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Human phenotypes related to X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
3 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 multiple joint contractures 58 31 frequent (33%) Frequent (79-30%) HP:0002828
8 progressive flexion contractures 58 31 frequent (33%) Frequent (79-30%) HP:0005876

Drugs & Therapeutics for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome

Genetic Tests for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Anatomical Context for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Publications for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Variations for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Expression for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome.

Pathways for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

GO Terms for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

Sources for X-Linked Intellectual Disability-Epilepsy-Progressive Joint...

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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