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

Severe neonatal-onset encephalopathy with microcephaly

Atypical teratoid tumor


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.92)	SMARCB1

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Atypical teratoid tumor
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare neurologic disease - Rare oncologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		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
Severe neonatal-onset encephalopathy with microcephaly
(no data available)