Mednik syndrome
From SNPedia
Mednik syndrome [1] is an extremely rare, severe inherited disease recently discovered in four French-Canadian families. The disease is named for its effects on the body:
- M = Mental retardation
- E = Enteropathy (intestinal pathology)
- D = Deafness
- N = peripheral Neuropathy (damage to nerves)
- I = Ichthyosis (scaly skin)
- K = Keratodermia (thickened skin)
Mednik syndrome is caused by defects in the adaptor protein gene AP1S1.
