Congenital lactase deficiency: an extremely rare inherited disorder in which a baby is born with very little or none of the enzyme that breaks down the sugar lactose found in milk, causing life - threatening lactose intolerance symptoms (babycenter.com)
Nail - Patella is an extremely rare inherited disorder that can result in improper development of fingernails or toenails, and absence or underdevelopment of the knee caps, among other symptoms. (sciencemag.org)
In a report on the work, published in Neuron on Dec. 23, the researchers say the combination therapy improved survival time, body weight and motor movements in mice with spinal muscular atrophy, a relatively rare inherited disorder characterized by the loss of motor neurons, or nerve cells that control movement. (sciencedaily.com)