Rare Disease Library

Proteus-like syndrome

Pseudo-TORCH syndrome type 1

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

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Robinow-like syndrome

Saal-Greenstein syndrome

Rothmund-Thomson syndrome type 1

Poikiloderma of Rothmund-Thomson type 1 · RTS1

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

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

Seckel syndrome

Simpson-Golabi-Behmel syndrome

DGSX · Golabi-Rosen syndrome

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

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

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

Usher syndrome type 1

USH1

Usher syndrome type 2

USH2

Usher syndrome type 3

USH3

Van den Ende-Gupta syndrome

Marden-Walker-like syndrome · VDEGS

Waardenburg syndrome type 1

WS1 · Waardenburg syndrome type I

Weaver-like syndrome

Wolfram-like syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency