MCID: FCL062
MIFTS: 6

Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

MalaCards integrated aliases for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation:

Name: Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation 59
Focal Epilepsy-Intellectual Disability-Dysarthria-Ataxia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA352587
ICD10 via Orphanet 34 Q04.8

Summaries for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

MalaCards based summary : Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation, is also known as focal epilepsy-intellectual disability-dysarthria-ataxia syndrome. An important gene associated with Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include brain.

Related Diseases for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Symptoms & Phenotypes for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Drugs & Therapeutics for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Search Clinical Trials , NIH Clinical Center for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation

Genetic Tests for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Anatomical Context for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

MalaCards organs/tissues related to Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation:

41
Brain

Publications for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Variations for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Expression for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Search GEO for disease gene expression data for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation.

Pathways for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

GO Terms for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

Sources for Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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