ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
25 signs/symptoms

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

5q14.3 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.85)	MEF2C

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		5q14.3 microdeletion syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Del(5)(q14.3) - Monosomy 5q14.3

	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 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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

5q14.3 microdeletion syndrome
	Very frequent - Autism / autistic disoders - Broad forehead - High forehead - Hypotonia - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Short philtrum - Short / small nose - Structural anomalies of the nervous system - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Anteverted nares / nostrils - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Mouth held open - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Strabismus / squint - Syndactyly of toes - Thick / bushy eyebrows
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)