Rare Disease Library

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Perrault syndrome type 1

XX gonadal dysgenesis-deafness syndrome-without neurological manifestations

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Pseudo-TORCH syndrome type 1

Band like calcification with simplified gyration and polymicrogyria · BLC-PMG

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

Stickler syndrome type 1

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Timothy syndrome

LQT8 · Long QT syndrome type 8

Timothy syndrome type 1

TS1 · LQT8 type 1

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2