EMPF1 is a rare genetic disorder characterized by delayed psychomotor development and hypotonia.
Long QT syndrome is a rare genetic heart disorder that can cause fast heartbeats, sometimes leading to fainting or seizure.
A diagnosis story of a girl diagnosed with Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Infantile cerebellar-retinal degeneration is one of the rare neurodegenerative disorders affecting the brain and eyes.
Gaucher disease is one of the most well known rare diseases in the group of lysosomal storage disorders.
A diagnosis story of a girl diagnosed with Infantile cerebellar-retinal degeneration
Molybdenum cofactor deficiency type B(MOCODB) is a rare metabolic disease derived from the defective MOSC2 gene.
A diagnosis story of a boy with Molybdenum cofactor deficiency type B(MOCODB)