ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
18 signs/symptoms

Severe neonatal-onset encephalopathy with microcephaly

Hypotrichosis - lymphedema - telangiectasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.63)	SOX18

Citations in the biomedical literature:

Severe neonatal-onset encephalopathy with microcephaly		Hypotrichosis - lymphedema - telangiectasia
	Synonym(s): - Severe congenital encephalopathy due to MECP2 mutation		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare skin 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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

Hypotrichosis - lymphedema - telangiectasia
	Very frequent - Absent / decreased / thin eyebrows - Alopecia - Decreased body hair / axillar / pubic hairlessness - Edema of the legs / lower limbs - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Lymphangioma / lymphatic malformations - Lymphedema - Telangiectasiae of the skin Frequent - Anomalies of eyelids, eyelashes and lacrimal system - Cutis marmorata / marbled skin / livedo - Follicular / erythematous / edematous papules / milium - Palpebral edema / periorbital edema - Vaginal hydrocele / hematocele / pyocele / lymphocele / varicocele - Varices / varicous veins / venous insufficiency Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Hydrops fetalis - Structural anomaly of the peritoneum
Severe neonatal-onset encephalopathy with microcephaly
(no data available)