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11 OMIM references -
12 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Autosomal recessive primary microcephaly
Rubinstein-Taybi syndrome due to CREBBP mutations

ASPM CREBBP
CASC5
CDK5RAP2
CDK6
CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CENPJ
(0.67)
CREBBP



Citations in the biomedical literature:


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

Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP



Autosomal recessive primary microcephaly
Rubinstein-Taybi syndrome due to CREBBP mutations

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal 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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.