Genetics

UBE3A gene

Medullary cystic kidney disease type 1

Charcot-Marie-Tooth disease

Ichthyosis with confetti

ALG12-congenital disorder of glycosylation

ATN1 gene

FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

ATG16L1 gene

NLRP12 gene

IRGM gene

OAT gene

GJA1 gene