Genetics

ABCC6 gene

HNF1A gene

CASK-related intellectual disability

Adiposis dolorosa

PSAP gene

North American Indian childhood cirrhosis

ARMS2 gene

MBL2 gene

Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis

ALDH5A1 gene

Isolated Duane retraction syndrome

Dopa-responsive dystonia