Rare Disease Library

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Pfeiffer syndrome type 2

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Spondyloepimetaphyseal dysplasia, Maroteaux type

Pseudo-Morquio syndrome type 2 · SEMD-M

SRD5A3-CDG

CDG-Iq · CDG1Q

SSR4-CDG

CDG syndrome type Iy · CDG-Iy

Stickler syndrome type 2

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Timothy syndrome type 2

TS2 · LQT8 type 2

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II