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Autosomal recessive primary microcephaly
11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Autosomal recessive myogenic arthrogryposis multiplex congenita
1 associated gene
No signs/symptoms info
Autosomal recessive primary microcephaly
Autosomal recessive myogenic arthrogryposis multiplex congenita

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 myogenic arthrogryposis multiplex congenita
SYNE1



Autosomal recessive primary microcephaly
Autosomal recessive myogenic arthrogryposis multiplex congenita

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly
Synonym(s):
- Autosomal recessive myogenic AMC
- SYNE1-related AMC
- SYNE1-related arthrogryposis multiplex congenita
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
11 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.