Rare Disease Library

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Allan-Herndon-Dudley syndrome

AHDS · MCT8 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

Combined immunodeficiency due to DOCK8 deficiency

CID due to DOCK8 deficiency · Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Dopamine beta-hydroxylase deficiency

DBH deficiency

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Prune belly syndrome

Abdominal muscle deficiency syndrome · Eagle-Barret syndrome

Pyruvate carboxylase deficiency

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

Rh deficiency syndrome

Rh-null syndrome

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Severe intellectual disability and progressive spastic paraplegia

AP4 deficiency syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Sodium-dependent multivitamin transporter deficiency

Systemic primary carnitine deficiency

CDSP · CUD

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transverse limb deficiency-hemangioma 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 creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2