RS552120721 LIPT1
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What This Variant Does
"CLNSIG=4
Associated Conditions
Hypotonia
Abnormal cardiovascular system morphology
Failure to thrive
Hearing impairment
Abnormal optic nerve morphology
Lipoyl transferase 1 deficiency
Leigh syndrome
Hypotonia
Abnormal cardiovascular system morphology
Failure to thrive
Hearing impairment
Abnormal optic nerve morphology
Lipoyl transferase 1 deficiency
Leigh syndrome
Other Variants in LIPT1