Rare Disease Library

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Glutamate-cysteine ligase deficiency

Gamma-glutamylcysteine synthetase deficiency

Glutathione synthetase deficiency

Pyroglutamicaciduria

Histidinemia

HAL deficiency · HIS deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Pyruvate carboxylase deficiency

Ataxia with lactic acidosis type 2 · Ataxia with lactic acidosis type II

Rh deficiency syndrome

Rh-null syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

X-linked central congenital hypothyroidism with late-onset testicular enlargement

IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2