17q23.1q23.2 microdeletion syndrome
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(Orphanet:261279)
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Absent thumb - short stature - immunodeficiency
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(Orphanet:2951)
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Absent tibia - polydactyly
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(Orphanet:988)
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Aniridia - absent patella
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(Orphanet:1069)
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Antecubital pterygium syndrome
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(Orphanet:2987)
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Arthrogryposis-like syndrome
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(Orphanet:1149)
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Baller-Gerold syndrome
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(Orphanet:1225)
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Blepharophimosis-intellectual deficit syndrome, Ohdo type
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(Orphanet:2728)
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Camptodactyly syndrome, Guadalajara type 2
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(Orphanet:1326)
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Coffin-Siris syndrome
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(Orphanet:1465)
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Coxo-podo-patellar syndrome
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(Orphanet:1509)
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Ear-patella-short stature syndrome
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(Orphanet:2554)
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Familial chondromalacia patellae
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(Orphanet:1428)
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Fryns-Smeets-Thiry syndrome
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(Orphanet:2058)
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Fuhrmann syndrome
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(Orphanet:2854)
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Genitopatellar syndrome
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(Orphanet:85201)
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Intellectual deficit - balding - patella luxation - acromicria
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(Orphanet:3041)
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Léri-Weill dyschondrosteosis
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(Orphanet:240)
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Madelung deformity
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(Orphanet:35688)
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Mosaic trisomy 8
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(Orphanet:96061)
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Multiple endocrine neoplasia type 2
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(Orphanet:653)
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Multiple epiphyseal dysplasia type 4
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(Orphanet:93307)
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Nail-patella syndrome
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(Orphanet:2614)
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Penoscrotal transposition
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(Orphanet:2842)
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RAPADILINO syndrome
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(Orphanet:3021)
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Recombinant 8 syndrome
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(Orphanet:96167)
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Roberts syndrome
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(Orphanet:3103)
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Rothmund-Thomson syndrome
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(Orphanet:2909)
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Say-Barber-Miller syndrome
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(Orphanet:3132)
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Spondyloepimetaphyseal dysplasia with multiple dislocations
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(Orphanet:93360)
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Talo-patello-scaphoid osteolysis
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(Orphanet:50809)
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Thrombocytopenia - absent radius
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(Orphanet:3320)
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Tibial aplasia - ectrodactyly
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(Orphanet:3329)
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