Tag: genetic disorder

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

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

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