Rare Disease Library

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

PPP2R5D-related neurodevelopmental disorder · Houge-Janssens syndrome type 1

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

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

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

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

PGM1-CDG

CDG syndrome type It · CDG-It

PMM2-CDG

CDG syndrome type Ia · CDG-Ia

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter 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

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia

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

Systemic cystic angiomatosis-Seip syndrome

Brunzell 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