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 "obesity" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • aniridia
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cushing syndrome
  • cystinuria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • sneddon syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated