Rare Disease Library

Pseudo-TORCH syndrome type 1

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

Pseudo-TORCH syndrome type 2

Pseudo-TORCH syndrome-2 · PTORCH2

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Rothmund-Thomson syndrome type 2

Poikiloderma of Rothmund-Thomson type 2 · RTS2

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

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

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 1

Stickler syndrome type 2

STT3A-CDG

CDG syndrome type Iw · CDG-Iw

STT3B-CDG

CDG syndrome type Ix · CDG-Ix

Stüve-Wiedemann syndrome

STWS · Stüve-Wiedemann dysplasia

Thrombocytopenia-absent radius syndrome

TAR syndrome

Timothy syndrome

LQT8 · Long QT syndrome type 8

Timothy syndrome type 1

TS1 · LQT8 type 1

Timothy syndrome type 2

TS2 · LQT8 type 2

TMEM165-CDG

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

TMEM199-CDG

CDG syndrome type IIp · CDG-IIp

Tricho-dento-osseous syndrome

TDO syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

Waardenburg syndrome type 2

WS2 · Waardenburg syndrome type II

Waardenburg syndrome type 3

Klein-Waardenburg syndrome · WS3

Waardenburg-Shah syndrome

Shah-Waardenburg syndrome · WS4

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency