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)
We present a male-female sib pair born to Ashkenazi Jewish parents with "arthrogryposis,"
hypotonia
-hypokinesia sequence and lymphedema. Of all the "arthrogryposis"
hypotonia
syndromes, the condition in these sibs appears to be most like that of the patients of German et al [1975] and the patient of Salmon [1978]. They appear to be the first sib pair with
German syndrome
, which suggests autosomal recessive inheritance. Three of the four known families with affected children have been Ashkenazi Jews.
...
PMID:German syndrome in sibs. 381 90
