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Genetics
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
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