RS750371878 HACE1

Health Risk Chr 6:104796666
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What This Variant Does
"CLNSIG=5
Associated Conditions
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Seizure
Global developmental delay
Generalized hypotonia
Intellectual disability
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Seizure
Global developmental delay
Generalized hypotonia
Intellectual disability
Other Variants in HACE1
rs142150565 rs2114793034 rs745394044 rs202110306 rs2115167557 rs2484021103 rs2114839785 rs915732285 rs2483143302 rs2483372241
Ask Dr. Hemsworth about this variant