MCID: FCL062
MIFTS: 6

Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation

Categories: Fetal diseases, 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 58
Focal Epilepsy-Intellectual Disability-Dysarthria-Ataxia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.8
Orphanet 58 ORPHA352587

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:

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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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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