Genetics

F9 gene

TXNL4A gene

Beta-ketothiolase deficiency

SLC35A2-congenital disorder of glycosylation

Nonketotic hyperglycinemia

Erythrokeratodermia variabilis et progressiva

PURA gene

46XX testicular difference of sex development

SMC3 gene

Jervell and Lange-Nielsen syndrome

Harlequin ichthyosis

Idiopathic pulmonary fibrosis