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Genetics
CHARGE syndrome
ACVR1 gene
WAGR syndrome
Leptin receptor deficiency
Prader-Willi syndrome
RRM2B-related mitochondrial DNA depletion syndrome encephalomyopathic form with renal tubulopathy
SIL1 gene
NPC1 gene
LTBP4 gene
Maturity-onset diabetes of the young
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