Rare Disease Library

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

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

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

CHIME syndrome

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

COG1-CDG

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

COG2-CDG

COG2-related congenital disorder of glycosylation

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

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

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Congenital disorder of glycosylation due to PIGM deficiency · PIGM-CDG

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II