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

GM3 synthase deficiency

Loeys-Dietz syndrome