RS137852973 BSCL2
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What This Variant Does
"[OMIM:?]
Associated Conditions
Hereditary spastic paraplegia 17
Charcot-Marie-Tooth disease type 2
Neuronopathy
distal hereditary motor
type 5A
type 5C
Abnormal central motor function
BSCL2-related disorder
Berardinelli-Seip congenital lipodystrophy
Charcot-Marie-Tooth disease type 2
Charcot-Marie-Tooth disease
Neuronopathy
distal hereditary motor
type 5C
Hereditary spastic paraplegia 17
Other Variants in BSCL2