Rare Disease Library

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Homocystinuria without methylmalonic aciduria

Functional methionine synthase deficiency · Methylcobalamin deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Methylcobalamin deficiency type cblE

Functional methionine synthase deficiency type cblE

Methylcobalamin deficiency type cblG

Functional methionine synthase deficiency type cblG

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Sodium-dependent multivitamin transporter deficiency

Systemic primary carnitine deficiency

CDSP · CUD

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency