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Prader-Willi syndrome due to imprinting mutation
5 associated genes
35 connected diseases
No signs/symptoms info
Disease Type of connection
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to translocation
Angelman syndrome
Giant cell glioblastoma
Gliosarcoma
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Young adult-onset Parkinsonism
Papillary or follicular thyroid carcinoma
Smith-Lemli-Opitz syndrome
Autosomal dominant secondary polycythemia
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
17q11 microdeletion syndrome
Aicardi-Goutières syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Brachytelephalangic chondrodysplasia punctata
Charcot-Marie-Tooth disease type 1F
Dyschromatosis symmetrica hereditaria
Familial infantile bilateral striatal necrosis
Hermansky-Pudlak syndrome type 7
Methylmalonic acidemia with homocystinuria, type cblX
Retinitis pigmentosa
Severe early-onset axonal neuropathy due to NEFL deficiency
Weaver syndrome
X-linked non-syndromic intellectual deficit
Williams syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.