ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Atypical teratoid tumor


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.83)	SMARCB1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Atypical teratoid tumor

	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 neurologic disease - Rare oncologic disease

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

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

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

Atypical teratoid tumor
	Very frequent - Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Nausea / vomiting / regurgitation / merycism / hyperemesis Frequent - Ataxia / incoordination / trouble of the equilibrium - Early death / lethality - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly - Muscle weakness / flaccidity - Restricted joint mobility / joint stiffness / ankylosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sleep and vigilance disorders Occasional - Acute palsy - Cranial nerves palsy - Intracranial / cerebral calcifications
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)