Barakat syndrome, also known as Hypoparathyroidism, Sensorineural deafness, and Renal disease (HDR) syndrome, is a heterogenous, autosomal dominant rare genetic disorder with incomplete penetrance and variable expressivity. It is primarily
Tag: genetic disorder
Kawashima Tsuji syndromeKawashima Tsuji syndrome
Kawashima Tsuji syndrome, or Microcephaly-deafness-intellectual disability syndrome, or simply Microcephaly-deafness syndrome, is an extremely rare genetic disorder characterized by microcephaly, deafness, intellectual deficit, speech delay, short height, and facial dysmorphism
Disorders Nursing Encyclopedia
Nathalie syndromeNathalie syndrome
Nathalie syndrome, also known as, Deafness-cataract-skeletal anomalies-cardiomyopathy syndrome or Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome, is a rare, genetic developmental defect during embryogenesis disorder. The disorder is characterized by sensorineural hearing
Disorders Nursing Encyclopedia
Tangier DiseaseTangier Disease
Tangier disease is a rare autosomal recessive condition characterized by low levels of high density lipoprotein cholesterol (HDL-C) in the blood, accumulation of cholesterol in many organs of the body,
Diseases Nursing Encyclopedia