RS201650281 KARS1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Inborn genetic diseases
Progressive cerebellar ataxia
Abnormal cerebral white matter morphology
Abnormal pyramidal sign
Congenital sensorineural hearing impairment
Optic neuropathy
Autosomal recessive nonsyndromic hearing loss 89
LEUKOENCEPHALOPATHY
PROGRESSIVE
INFANTILE-ONSET
WITH DEAFNESS
Deafness
congenital
and adult-onset progressive leukoencephalopathy
KARS1-related disorder
Other Variants in KARS1