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:C0026838 (
spasticity
)
6,471
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The case of a male infant with neonatal encephalopathy and a de novo MECP2 mutation is reported. The presenting phenotype of decelerating head growth,
spasticity
, scoliosis, and central respiratory disturbance raised suspicions of the diagnosis.
Neonatal encephalopathy
in males is part of a spectrum of disorders caused by MECP2 dysfunction.
...
PMID:Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2. 1271 1
