MedGen

An inherited or acquired condition characterized by the inability to hear in one or both ears. [from NCI]

A decreased magnitude of the sensory perception of sound. [from HPO]

A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. [from NCI]

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. [from MONDO]

A non-neoplastic or neoplastic disorder that affects the ear. Representative examples include infections, hearing disorders, benign neoplasms, and carcinomas. [from NCI]

Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females. [from GeneReviews]