Rare Disease Library

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Complement component 3 deficiency

C3 deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 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

Neurometabolic disorder due to serine deficiency

Serine 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

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Transaldolase deficiency

TALDO deficiency

Transcobalamin deficiency

Inherited deficiency of transcobalamin · Transcobalamin II deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

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