Rare Disease Library

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Congenital muscular dystrophy with intellectual disability and severe epilepsy

CDG syndrome type Iu · CDG-Iu

Crigler-Najjar syndrome type 2

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2

DDOST-CDG

CDG syndrome type Ir · CDG-Ir

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

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

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Feingold syndrome type 2

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

Fetal akinesia deformation sequence

Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome · FADS

FG syndrome type 1

Opitz-Kaveggia syndrome

Griscelli syndrome type 1

Griscelli-Pruniéras syndrome type 1 · Hypopigmentation-neurologic impairment syndrome

Griscelli syndrome type 2

Griscelli-Pruniéras syndrome type 2 · Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

Griscelli syndrome type 3

Griscelli-Pruniéras syndrome type 3

H syndrome

Heart-hand syndrome type 2

Atriodigital dysplasia type 2 · Tabatznik syndrome

Heart-hand syndrome type 3

Atriodigital dysplasia type 3 · Cardiomelic syndrome type 3

Hermansky-Pudlak syndrome due to AP3B1 deficiency

Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency

Holt-Oram syndrome

Atriodigital dysplasia type 1 · HOS

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Hyperphosphatasia-intellectual disability syndrome

Mabry syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome

Nabais Sa-de Vries type 2 syndrome

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

Smith-Kingsmore syndrome · MINDS syndrome

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Malan overgrowth syndrome

Sotos syndrome 2

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Mandibulofacial dysostosis-microcephaly syndrome

MFDM syndrome · Mandibulofacial dysostosis, Guion-Almeida type

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Marfanoid syndrome, De Silva type

MASA syndrome

Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome

MASS syndrome

Mitral valve-aorta-skeleton-skin syndrome