Rare Disease Library

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Corticosteroid-binding globulin deficiency

Transcortin deficiency

Creatine deficiency syndrome

CDS · Cerebral creatine deficiency syndrome

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency

Methylmalonic acidemia with homocystinuria type cblF

CblF defect · Cobalamin F defect

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Transaldolase deficiency

TALDO deficiency

Transketolase deficiency

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

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency