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Familial hypercholesterolemia
Gene: LDLR
Familial hypercholesterolemia
Gene: PCSK9
Familial hyperinsulinemic hypoglycemia
Gene: ABCC8
Familial hypercholesterolemia
Gene: LDLR_MLPA
Familial hyperinsulinemic hypoglycemia
Gene: ABCC8_MLPA
Familial central diabetes insipidus
Gene: AVP
Encephalopathy, progressive, with/without lipodystrophy
Gene: BSCL2
DiGeorge syndrome
Gene: 22q11.2 region
Diabetes insipidus, nephrogenic, type I, X-linked
Gene: AVPR2
Diabetes insipidus, nephrogenic, type II
Gene: AQP2
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