Rare Disease Library

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Anterior maxillary protrusion-strabismus-intellectual disability syndrome

MRAMS syndrome

Behr syndrome

Behr complicated familial optic atrophy

Bencze syndrome

Hemifacial hyperplasia-strabismus syndrome

Blepharo-cheilo-odontic syndrome

BCD syndrome · Blepharocheilodontic syndrome

Blue rubber bleb nevus

Bean syndrome · BRBN

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Bowen syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Denys-Drash syndrome

Wilms tumor-DSD syndrome · Drash syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Hypertrichosis cubiti

MacDermot-Patton-Williams syndrome · Hairy elbows syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome

Berlin syndrome · Ectodermal dysplasia, Berlin type

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Berdon syndrome · MMIHS

Metaphyseal acroscyphodysplasia

Bellini syndrome · Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prader-Willi-like syndrome

PWS-like

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Talo-patello-scaphoid osteolysis

Singh-Williams-McAlister 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

Weaver-Williams syndrome

Wildervanck syndrome

Cervicooculoacoustic syndrome

Williams-Campbell syndrome

X-linked intellectual disability, Wittwer type

Wittwer syndrome