Rare Disease Library

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

Xanthinuria type I

XDH deficiency · XO deficiency

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency