Beta-mercaptolactate cysteine disulfiduria

No data available

Carnosinase deficiency

Autosomal recessive

Infancy

Congenital deficiency in alpha-fetoprotein

Autosomal recessive

Antenatal, Neonatal

Familial Hyperalphalipoproteinemia

Autosomal dominant

Genetic hyperferritinemia without iron overload

Autosomal dominant, Autosomal recessive

No data available

Hereditary persistence of alpha-fetoprotein

Autosomal dominant

Adolescent

Idiopathic CD4 lymphocytopenia

Not applicable

Adult

Isolated asymptomatic elevation of creatine phosphokinase

Autosomal dominant

All ages

L-ferritin deficiency

Autosomal dominant, Autosomal recessive

Childhood

Lipoyl transferase 2 deficiency

No data available

No data available

Methylmalonic aciduria due to transcobalamin receptor defect

Autosomal recessive

Infancy, Neonatal