Rare Disease Library

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

PSPH deficiency, infantile/juvenile form

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Carnitine palmitoyl transferase II deficiency, neonatal form

CPT2, lethal systemic form · CPT2, neonatal form

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency

3-phosphoglycerate dehydrogenase deficiency, prenatal form

Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency

3-phosphoserine phosphatase deficiency, prenatal form

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia