My Odyssey #11: Korea's First Case of Gabriele-de Vries Syndrome
A look into Korea's first-and-only documented case of Gabriele-de Vries syndrome.…
My Odyssey #10: TFE3-related Neurodevelopmental Disorder
Olivia’s story diagnosed with TFE3-related neurodevelopmental disorder Olivia’s features shown before and at birth Olivia had ultrasonography before birth, and was suspected of having…
My Odyssey #9: Diagnosed with VCTERL
Story of a girl diagnosed with Vertebral, cardiac, tracheoesophageal, renal, and limb defects (VCTERL) Irene’s First visit to the hospital When Irene first visited the…
My Odyssey #8: Diagnosed with IPEX
Story of a man diagnosed with Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) Beginning of the story James was born at full-term delivery to unrelated parents. After…
My Odyssey #7 - Analyzing a Case of Encephalopathy, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 1
Story of a girl diagnosed with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Beginning of the story Hannah was born at 37 weeks of…
My Odyssey #6: Diagnosed with Infantile Cerebellar-retinal Degeneration
Story of a girl diagnosed with Infantile cerebellar-retinal degeneration Beginning of the story A girl was born at 38 weeks of gestation to unrelated parents. Her…
My Odyssey #5 - Diagnosed with Molybdenum Cofactor Deficiency Type B
Story of a boy diagnosed with Molybdenum cofactor deficiency type B(MOCODB) Beginning of the story A boy was born to a family with a cute…
My Odyssey #4: Two Kids Diagnosed with Cardio-facio-cutaneous Syndrome
Story of 2 kids with Cardio-facio-cutaneous syndrome Beginning of the story A boy was born at 35 weeks of gestation from healthy, nonconsanguineous parents. He weighed…
My Odyssey #3: Diagnosed with SSOAOD
Story of a 15-year-old boy diagnosed with a heterozygous ACAN mutation with short stature and advanced bone age Start of the Story A boy was born…
My Odyssey #2 - Diagnosed with Schaaf-Yang Syndrome
Story of a boy diagnosed with Schaaf-Yang syndrome after more than one year of his diagnostic odyssey Start of the story A boy was born at…
My Odyssey #1: Diagnosed with Coffin-Siris Syndrome
Story of a 38 month-old girl diagnosed with Coffin-Siris syndrome after more than 3 years of her diagnostic odyssey Her Story A girl was born at…