MCID: MCR285
MIFTS: 7

Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards integrated aliases for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome:

Name: Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Orphanet 59 ORPHA171703
ICD10 via Orphanet 34 Q04.3

Summaries for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards based summary : Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome An important gene associated with Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome is EOMES (Eomesodermin). Affiliated tissues include brain.

Related Diseases for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Symptoms & Phenotypes for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Drugs & Therapeutics for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Genetic Tests for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Anatomical Context for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

MalaCards organs/tissues related to Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome:

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Brain

Publications for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Variations for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Expression for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Search GEO for disease gene expression data for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome.

Pathways for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

GO Terms for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

Biological processes related to Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 DISC1 EOMES

Sources for Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome

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
38 LifeMap
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42 MedGen
44 MeSH
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46 MGI
49 NCI
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54 NINDS
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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