There are two forms of the disease - 1. A lethal neonatal form and a chronic form.Hypertrophic cardiomyopathy is diagnosed at birth in half. Death in the first year is usually due to cardiac failure. Marked lactic acidemia occurs with even limited muscular exertion. 2.The chronic form has stable cardiomyopathy and myopathy with normal intellect.Other reported features include nystagmus, strabismus, hypotonia, hyporeflexia and delayed motor development.
Sengers syndrome
Strømme syndrome
Galloway Mowat syndrome
Andersen–Tawil syndrome
Aase syndrome
Weaver syndrome
Adams–Nance syndrome
Jacobsen syndrome