ORPHA:319678

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:319678 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.