Genetics

Achondroplasia

HBA1 gene

RPE65 gene

PHKB gene

Lactose intolerance

Cole disease

Multiple sulfatase deficiency

N-acetylglutamate synthase deficiency

Pyruvate dehydrogenase deficiency

Familial cold autoinflammatory syndrome type 2

Hypomagnesemia with secondary hypocalcemia

VHL gene