Rare Disease Library

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

ATP6AP1-CDG

ATP6AP1-congenital disorder of glycosylation · ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

CCDC115-CDG

CDG syndrome type IIo · CDG-IIo

COG1-CDG

Congenital disorder of glycosylation type 2g · CDG syndrome type IIg

COG4-CDG

Congenital disorder of glycosylation type 2j · CDG syndrome type IIj

COG5-CDG

CDG syndrome type IIi · CDG-IIi

COG7-CDG

CDG syndrome type IIe · CDG-IIe

COG8-CDG

CDG syndrome type IIh · CDG-IIh

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

MAN1B1-CDG

Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency · Congenital disorder of glycosylation type II due to MAN1B1 deficiency

MAN2B2-CDG

MAN2B2-congenital disorder of glycosylation · Mannosidase alpha class 2B member 2-congenital disorder of glycosylation

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

ST3GAL3-CDG

ST3GAL3-related congenital disorder of glycosylation · ST3GAL3-related carbohydrate deficient glycoprotein syndrome

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

TMEM165-CDG

Carbohydrate deficient glycoprotein syndrome type IIk · Congenital disorder of glycosylation type 2k

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp