Genetics

Congenital cataracts facial dysmorphism and neuropathy

Glutathione synthetase deficiency

STXBP1 encephalopathy

Tetrasomy 18p

KCNJ5 gene

TH gene

ERAP1 gene

Chorea-acanthocytosis

MYO5A gene

Deafness-dystonia-optic neuronopathy syndrome

Purine nucleoside phosphorylase deficiency

Cholangiocarcinoma