Genetics

SH3BP2 gene

HLA-B gene

Carbamoyl phosphate synthetase I deficiency

NEU1 gene

HAX1 gene

FGF23 gene

Episodic ataxia

Myofibrillar myopathy

Familial male-limited precocious puberty

ITPKC gene

Very long-chain acyl-CoA dehydrogenase deficiency

PYCR1 gene