Rare Disease Library

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

B4GALT1-CDG

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

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

COG6-CGD

CDG2L · CDG syndrome type IIL

COG7-CDG

CDG syndrome type IIe · CDG-IIe

COG8-CDG

CDG syndrome type IIh · CDG-IIh

MAN1B1-CDG

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

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

SLC35A2-CDG

CDG syndrome type IIm · CDG-IIm

SLC39A8-CDG

SLC39A8 deficiency · Congenital disorder of glycosylation type IIn

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

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

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

COG2-CDG

COG2-related congenital disorder of glycosylation

Congenital disorder of glycosylation

CDG · Carbohydrate deficient glycoprotein syndrome

Congenital disorder of glycosylation with cardiac malformation as a major feature

CDG with cardiac malformation as a major feature

Congenital disorder of glycosylation with deafness as a major feature

Congenital disorder of glycosylation with hearing loss as a major feature · CDG with hearing loss as a major feature

Congenital disorder of glycosylation with developmental anomaly

CDG with developmental anomaly

Congenital disorder of glycosylation with dilated cardiomyopathy

CDG with dilated cardiomyopathy

Congenital disorder of glycosylation with epilepsy as a major feature

CDG with epilepsy as a major feature

Congenital disorder of glycosylation with hepatic involvement

CDG with hepatic involvement

Congenital disorder of glycosylation with intestinal involvement

CDG with intestinal involvement

Congenital disorder of glycosylation with nephropathy as a major feature

CDG with nephropathy as a major feature

Congenital disorder of glycosylation with neurological involvement

CDG with neurological involvement

Congenital disorder of glycosylation with skin involvement

CDG with skin involvement

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

Disorder of multiple glycosylation

Disorder of protein N-glycosylation

Disorder of protein O-glycosylation

DK1-CDG

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

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij