Rare Disease Library

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

Sodium-dependent multivitamin transporter deficiency

Systemic primary carnitine deficiency

CDSP · CUD

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency