Rare Disease Library

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Multiple congenital anomalies-hypotonia-seizures syndrome

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

OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

PGM1-CDG

CDG syndrome type It · CDG-It

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Rare disorder with conjunctival involvement as a major feature

Rare disorder with corneal involvement as a major feature

Rare disorder with Hirschsprung disease as a major feature

Rare genetic disorder with conjunctival involvement as a major feature

Rare genetic disorder with corneal involvement as a major feature

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

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

SRD5A3-CDG

CDG-Iq · CDG1Q

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

ST3GAL3-CDG

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

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Syndrome with congenital neutropenia as a major feature

Syndrome with constitutional neutropenia as a major feature · Syndrome with genetic neutropenia as a major feature

Syndrome with congenital phagocyte functional defect as a major feature

Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp