Rare Disease Library

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

KID syndrome

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

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

Marcus-Gunn syndrome

Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Microcephaly-cardiac defect-lung malsegmentation syndrome

Ellis-Yale-Winter syndrome

Monoamine oxidase A deficiency

Brunner syndrome

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

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

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

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

Prader-Willi syndrome

Prader-Labhart-Willi syndrome

Prominent glabella-microcephaly-hypogenitalism syndrome

MacDermot-Winter syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Superior mesenteric artery syndrome

Wilkie syndrome · SMAS

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

Systemic cystic angiomatosis-Seip syndrome

Brunzell syndrome

Torg-Winchester syndrome

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

WAGR syndrome

Del(11)(p13) · Deletion 11p13

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

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

Weaver syndrome

EZH2-related overgrowth syndrome · Syndrome d'hypercroissance associé à EZH2

Wells syndrome

Eosinophilic cellulitis

Werner syndrome

Adult progeria · WS

West syndrome

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Wieacker-Wolff syndrome

Foot contractures-muscle atrophy-oculomotor apraxia syndrome

Wiedemann-Steiner syndrome

Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23

Wilson-Turner syndrome

WTS · X-linked intellectual disability-gynecomastia-obesity syndrome

X-linked intellectual disability, Wittwer type

Wittwer syndrome