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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
3 associated genes
12 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Isolated brachycephaly

CREBBP FGFR3
TCF12
TWIST1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.62)
TCF12



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Isolated brachycephaly
FGFR3 TCF12 TWIST1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Isolated brachycephaly

Synonym(s):
(no synonyms)

Synonym(s):
- Non-syndromic bicornal synostosis

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 (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Isolated brachycephaly

Very frequent
- Brachycephaly / flat occiput
- Broad forehead

Frequent
- Cranial hypertension
- Flat supraorbital ridge
- Hearing loss / hypoacusia / deafness
- Proptosis / exophthalmos

Occasional
- Autosomal dominant inheritance
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)