Rare Disease Library

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

AEC syndrome · Hay-Wells syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Cleft palate-lateral synechia syndrome

CPLS syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Jackson-Weiss syndrome

Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome · JWS

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

Jalili syndrome

Cone rod dystrophy-amelogenesis imperfecta syndrome

Jawad syndrome

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Jung syndrome

Marcus-Gunn syndrome

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

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Mills syndrome

Muckle-Wells syndrome

Neutrophilic urticaria

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple synostoses syndrome

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

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome

Chung-Jansen syndrome · DIDOD

Rowell syndrome

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

VIPoma

Diarrheogenic islet cell tumor · Pancreatic cholera

W syndrome

Pallister-W syndrome

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