Rare Disease Library

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

H syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

HIDEA syndrome

Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome

Hinman syndrome

HAS · HS

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

KID syndrome

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

Léri-Weill dyschondrosteosis

Léri-Weill syndrome

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

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

W syndrome

Pallister-W syndrome

Weaver syndrome

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

Weiss-Kruszka Syndrome

Metopic ridging-ptosis-facial dysmorphism syndrome

Wells syndrome

Eosinophilic cellulitis

Werner syndrome

Adult progeria · WS

West syndrome

WHIM syndrome

WILM · Warts-hypogammaglobulinemia-infections-myelokathexis syndrome