RS730882234 PTRH2
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What This Variant Does
"CLNSIG=5
Associated Conditions
Cerebellar ataxia
Global developmental delay
Hearing impairment
Neurologic
endocrine
and pancreatic disease
multisystem
infantile-onset
infantile-onset 1
Cerebellar ataxia
Global developmental delay
Hearing impairment
Neurologic
endocrine
and pancreatic disease
Other Variants in PTRH2