Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy)
Symptoms: Skeletal myopathy, cardiomyopathy, short stature, and neutropenia
Cause: X-linked recessive
Source: Dr. J. Christodoulou; Barth syndrome: clinical observations and genetic linkage studies; American Journal of Medical Genetics; 1994; 50(3); 255-64
Links: Barth Syndrome Family Network http://www.barthsyndrome.org/
https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome