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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
2 signs/symptoms
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Benign familial chorea

CREBBP NKX2-1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.8)
NKX2-1



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
CREBBP
Benign familial chorea
NKX2-1



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Benign familial chorea

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary benign chorea

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 genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

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

Benign familial chorea

Very frequent
- Abnormal gait
- Movement disorder



Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

(no data available)