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Trisomy Xq28
1 OMIM reference -
1 associated gene
30 connected diseases
15 signs/symptoms
Disease Type of connection
Atypical Rett syndrome
Intellectual deficit, X-linked - psychosis - macroorchidism
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
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):
- Distal duplication Xq
- Telomeric duplication Xq
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MECP2 P51608300005
Very frequent
- Blepharophimosis / short palpebral fissures
- Delayed bone age
- Epicanthic folds
- Everted lower lip
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Ptosis
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tented upper lip
- Total / partial trisomy / duplication
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal gait
- Inguinal / inguinoscrotal / crural hernia
- Pectus excavatum

Occasional
- Restricted joint mobility / joint stiffness / ankylosis