Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
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Query: UMLS:C0040822 (
tremor
)
18,428
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Kabuki syndrome
is a rare congenital disorder first described in 1981. Case reports indicate multiple congenital abnormalities: skeletal anomalies, cognitive impairment, characteristic facial appearance, and peculiar dermatoglyphic patterns. We describe a patient with
Kabuki syndrome
who presented with physiologic
tremor
in her distal upper extremities. Cranial magnetic resonance imaging revealed symmetric T(2)-hyperintense lesions with mildly restricted diffusion in the lentiform nuclei, red nuclei, and dentate nuclei bilaterally. Although multiple abnormalities of the central nervous system were reported previously in
Kabuki syndrome
, this patient is the first, to the best of our knowledge, with the unique findings that we observed.
...
PMID:Tremor and deep brain nuclei hyperintensities in Kabuki syndrome. 2061 Jan 29
