/cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Rare Disease

MONDO:0014455

Also Known As

CAGSSScataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

mitochondrial respiratory chain complex deficiency

MONDO:0000066

combined oxidative phosphorylation deficiency

MONDO:0000732

myopathy, lactic acidosis, and sideroblastic anemia

MONDO:0000863

optic atrophy 3

MONDO:0008133

autosomal dominant optic atrophy, classic form

MONDO:0008134

Leigh syndrome

MONDO:0009723