Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The authors report two cases of Brazilian children with most of the common syndromic features of Proteus syndrome, such as asymmetric overgrowth of tissues, skin abnormalities,
hypotonia
and mental retardation. In both patients, a refractory epilepsy, compatible with
Ohtahara syndrome
, as well as hemimegalencephaly, with asymmetric distribution of facial fat, were also diagnosed.
...
PMID:Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. 1808 31
