1q21.1 microdeletion syndrome
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(Orphanet:250989)
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Craniofrontonasal dysplasia
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(Orphanet:1520)
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Faciocardiorenal syndrome
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(Orphanet:1973)
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Greig cephalopolysyndactyly syndrome
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(Orphanet:380)
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HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
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(OMIM:614749)
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Keipert syndrome
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(Orphanet:2662)
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Lacrimo-auriculo-dento-digital syndrome
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(Orphanet:2363)
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Muenke syndrome
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(Orphanet:53271)
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OPITZ-KAVEGGIA SYNDROME
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(OMIM:305450)
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Paraplegia - brachydactyly - cone-shaped epiphysis
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(Orphanet:2823)
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Stapes ankylosis with broad thumbs and toes
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(Orphanet:140917)
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TEMPLE-BARAITSER SYNDROME
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(OMIM:611816)
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