Rare Disease Library

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG11-CDG

CDG syndrome type Ip · CDG-Ip

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG13-CDG

Congenital disorder of glycosylation type Is · CDG syndrome type Is

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Bartter syndrome type 2

Bartter syndrome type II

Biemond syndrome type 2

Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome

CAD-CDG

CDG-Iz · Congenital disorder of glycosylation type 1z

Cerebrofaciothoracic dysplasia

Pascual-Castroviejo syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type II

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Complex regional pain syndrome type 2

Causalgia

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

DPM3-CDG

CDG syndrome type Io · CDG-Io

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Marfan syndrome type 2

MFS2

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

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

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 2

USH2