Rare Disease Library

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

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

KID syndrome

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

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Torg-Winchester syndrome

W syndrome

Pallister-W syndrome

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

WILD syndrome · Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome

Wells syndrome

Eosinophilic cellulitis

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

X-linked intellectual disability, Wittwer type

Wittwer syndrome

Zollinger-Ellison syndrome

Gastrinoma