Progressive Retinal Atrophy
Condition characterised by bilateral degeneration of the retina, causing progressive vision loss, resulting in blindness.
Blood Group B
Homozygous recessive genotype for blood group B.
Condition characterised by low levels of potassium in the blood, resulting in skeletal muscle weakness.
Burmese Head Defect
Condition characterised by craniofacial defects.
Erythrocyte Pyruvate Kinase Deficiency
Condition characterised by a mutation in regulatory glycolytic enzyme pyruvate kinase, resulting in hemolytic anemia.
Condition characterised by an abnormal increase in myocardial mass, which affects the cardial structure and function.
Spinal Muscular Atrophy
Neurodegenerative disease resulting in profound hypotonia and weakness with preservation of mental status.
Polycystic Kidney Disease
Chronic kidney disease, resulting in hypertension and progressive heart failure.