RS5352 EDNRB
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What This Variant Does
"[OMIM:HIRSCHSPRUNG DISEASE 2]
Associated Conditions
Hirschsprung disease
susceptibility to
2
Waardenburg syndrome type 2A
Waardenburg syndrome type 4A
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type)
autosomal dominant
ABCD syndrome
Hirschsprung disease
susceptibility to
2
Waardenburg syndrome type 2A
Waardenburg syndrome type 4A
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type)
autosomal dominant
Other Variants in EDNRB