Conditions

Kabuki syndrome is a rare, congenital disorder characterized by distinctive facial features, growth delays, mild-to-moderate intellectual disability, skeletal abnormalities and short stature. The syndrome’s true incidence rate is unknown, as many people are not diagnosed properly, but is estimated...

The parents of an individual with this disease usually each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. The affected gene is called GALC, which provides instructions for producing an enzyme called galactocerebrosidase. Deficiency of this enzyme leads to...