Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Target Concepts:
Gene/Protein
Disease
Symptom
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Compound
Query: UMLS:C0020505 (
hyperphagia
)
6,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism,
hyperphagia
and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY karyotype (Klinefelter syndrome) and coronal
craniosynostosis
. These are different unrelated conditions and it was not described before in the same patient to the best of our knowledge.
...
PMID:Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis. 1679 74
