RS398124401 SRD5A3
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What This Variant Does
"CLNSIG=5
Associated Conditions
SRD5A3-congenital disorder of glycosylation
Congenital disorder of glycosylation
Cone dystrophy
Global developmental delay
Autism
Kahrizi syndrome
Abnormality of the nervous system
SRD5A3-related disorder
Retinal disorder
SRD5A3-congenital disorder of glycosylation
Congenital disorder of glycosylation
Cone dystrophy
Global developmental delay
Autism
Kahrizi syndrome
Other Variants in SRD5A3