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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive ataxia, Beauce type
1 OMIM reference -
1 associated gene
1 sign/symptom
Autosomal recessive primary microcephaly
Autosomal recessive ataxia, Beauce type

ASPM
(UniProt - OMIM)
 SYNE1
(UniProt - OMIM)
CASC5
(UniProt - OMIM)
CDK5RAP2
(UniProt - OMIM)
CDK6
(UniProt - OMIM)
CENPJ
(UniProt - OMIM)
CEP135
(UniProt - OMIM)
CEP152
(UniProt - OMIM)
CEP63
(UniProt - OMIM)
MCPH1
(UniProt - OMIM)
PHC1
(UniProt - OMIM)
STIL
(UniProt - OMIM)
WDR62
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CEP63
(0.63)
SYNE1


Citations in the biomedical literature:


Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62

Autosomal recessive ataxia, Beauce type
SYNE1



Autosomal recessive primary microcephaly
Autosomal recessive ataxia, Beauce type

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- ARCA1
- Autosomal recessive cerebellar ataxia type 1
- SCAR8
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
11 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Autosomal recessive ataxia, Beauce type

Very frequent
- Ataxia / incoordination / trouble of the equilibrium



Autosomal recessive primary microcephaly

(no data available)