Rare Diseases Symptoms Automatic Extraction

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

[cohen syndrome]

Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.

Diseases presenting "multiple congenital anomalies" symptom

  • aniridia
  • cohen syndrome
  • kabuki syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

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