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Tag: genetic disorder

Barakat syndromeBarakat syndrome

March 21, 2024March 21, 2024 nradmin 0 Comments 12:22 pm

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

Disorders Nursing Encyclopedia

Kawashima Tsuji syndromeKawashima Tsuji syndrome

March 11, 2024March 11, 2024 nradmin 0 Comments 6:13 pm

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

February 19, 2024February 19, 2024 nradmin 0 Comments 10:52 am

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

November 2, 2023November 2, 2023 nradmin 0 Comments 1:44 am

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

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nradmin May 28, 2024
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