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Severe neonatal-onset encephalopathy with microcephaly
1 OMIM reference -
1 associated gene
30 connected diseases
No signs/symptoms info
Disease Type of connection
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Trisomy Xq28
X-linked non-syndromic intellectual deficit
Coffin-Siris syndrome
Familial multiple meningioma
Atypical teratoid tumor
Familial rhabdoid tumor
Neurofibromatosis type 3
Intellectual deficit - sparse hair - brachydactyly
1p36 deletion syndrome
Greenberg dysplasia
Reynolds syndrome
Shprintzen-Goldberg syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
West syndrome
Adams-Oliver syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Cornelia de Lange syndrome
Familial partial lipodystrophy associated with PPARG mutations
Giant cell glioblastoma
Gliosarcoma
Hypotrichosis - lymphedema - telangiectasia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Wolf-Hirschhorn syndrome
Acatalasemia
Xeroderma pigmentosum complementation group C
Synonym(s):
- Severe congenital encephalopathy due to MECP2 mutation
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MECP2 P51608300005
No signs/symptoms info available.