Rare Disease Library

46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

17-beta-hydroxysteroid dehydrogenase 3 deficiency · 17-ketoreductase deficiency

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

2,4-dienoyl-CoA reductase deficiency · DECR deficiency with hyperlysinemia

Recessive X-linked ichthyosis

RXLI · Steroid sulfatase deficiency

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Xanthinuria type I

XDH deficiency · XO deficiency