Linear skin defects without microphthalmia (LSDMCA3), cardiomyopathy and other congenital anomalies. Mutations in this transcript have also been described in mitochondrial complex I deficiency, nuclear type 30 in one male infant (intrauterine growth restriction, premature birth, heart failure, respiratory failure, redundant skin and metabolic acidosis; the patient died 55 hours after birth. An additional condition associated with mutation in this transcript is congenital sideroblastic anemia (CSA). Mutations in the transcript are rare. The condition with linear skin defects is X-linked dominant male lethal. The mitochondrial complex I deficiency, type 30 has been described in few cases.