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Intellectual deficit, X-linked - psychosis - macroorchidism
1 OMIM reference -
1 associated gene
30 connected diseases
13 signs/symptoms
Disease Type of connection
Atypical Rett syndrome
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
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):
- Lindsay-Burn syndrome
- PPM-X
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Mental and behavioural disorders -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MECP2 P51608300005
Very frequent
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Abnormal gait
- EEG anomalies
- Long / large ear
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Psychic / psychomotor regression / dementia / intellectual decline
- Scoliosis
- Structural anomalies of the cardio-circulatory system