2q31.1 microdeletion syndrome
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(Orphanet:251014)
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Acroosteolysis, dominant type
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(Orphanet:955)
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Aphalangy - syndactyly - microcephaly
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(Orphanet:1113)
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Bartsocas-Papas syndrome
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(Orphanet:1234)
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Brachydactyly type B
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(Orphanet:93383)
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Brachydactyly type B2
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(Orphanet:140908)
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Brachymorphism - onychodysplasia - dysphalangism
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(Orphanet:1292)
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Branchiogenic deafness syndrome
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(Orphanet:50815)
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Keipert syndrome
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(Orphanet:2662)
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Maxillo-nasal dysplasia
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(Orphanet:1248)
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Mesoaxial synostotic syndactyly with phalangeal reduction
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(Orphanet:157801)
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Microcephaly-albinism-digital anomalies
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(Orphanet:2513)
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Mononen-Karnes-Senac syndrome
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(Orphanet:2565)
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Oculocerebrocutaneous syndrome
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(Orphanet:1647)
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Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia
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(Orphanet:94066)
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Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence
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(Orphanet:3201)
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Yunis-Varon syndrome
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(Orphanet:3472)
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Zimmermann-Laband syndrome
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(Orphanet:3473)
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