Genetics

Distal myopathy 2

DYSF gene

IKBKG gene

Bare lymphocyte syndrome type I

IKBKG gene

Sudden infant death with dysgenesis of the testes syndrome

GABA-transaminase deficiency

SLCO1B3 gene

CYP2C19 gene

Leukoencephalopathy with thalamus and brainstem involvement and high lactate

CUL3 gene

MASP1 gene