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

Mucopolysaccharidosis type 2, severe form

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

Multiple mitochondrial DNA deletion syndrome

Multiple mtDNA deletion syndrome

Non-distal deletion 10q syndrome

Non-distal monosomy 10q · Non-telomeric monosomy 10q

Non-distal deletion 12q syndrome

Non-distal monosomy 12q · Non-telomeric monosomy 12q

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Partial autosomal deletion syndrome

Partial autosomal monosomy

Partial deletion of chromosome 1 syndrome

Partial monosomy of chromosome 1

Partial deletion of chromosome 2 syndrome

Partial monosomy of chromosome 2

Partial deletion of chromosome 3 syndrome

Partial monosomy of chromosome 3

Partial deletion of chromosome 4 syndrome

Partial monosomy of chromosome 4

Partial deletion of chromosome 5 syndrome

Partial monosomy of chromosome 5

Partial deletion of chromosome 6 syndrome

Partial monosomy of chromosome 6

Partial deletion of chromosome 7 syndrome

Partial monosomy of chromosome 7

Partial deletion of chromosome 8 syndrome

Partial monosomy of chromosome 8

Partial deletion of chromosome 9 syndrome

Partial monosomy of chromosome 9

Partial deletion of chromosome X syndrome

Partial monosomy of chromosome X

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

PGM1-CDG

CDG syndrome type It · CDG-It

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

RFT1-CDG

CDG1N · Carbohydrate deficient glycoprotein syndrome type In

Sanfilippo syndrome type A

Mucopolysaccharidosis type IIIA · Heparan sulfamidase deficiency

Sanfilippo syndrome type D

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

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

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

Smith-Magenis syndrome

17p11.2 microdeletion syndrome

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

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