RS587783070 IARS2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Peripheral neuropathy
Cataract
growth hormone deficiency with short stature
partial sensorineural deafness
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Peripheral neuropathy
Cataract
growth hormone deficiency with short stature
partial sensorineural deafness
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Other Variants in IARS2