ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Aniridia - cerebellar ataxia - intellectual deficit


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.79)	PAX6

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): (no synonyms)		Synonym(s): - Gillespie syndrome

	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 developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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

Aniridia - cerebellar ataxia - intellectual deficit
	Very frequent - Aniridia / iris hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)