Atelosteogenesis type II
|
(Orphanet:56304)
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BRACHYDACTYLY, TYPE A1, B
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(OMIM:607004)
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BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION
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(OMIM:613627)
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Bardet-Biedl syndrome 17
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(OMIM:615994)
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Brachydactyly type A2
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(Orphanet:93396)
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Brachydactyly type A4
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(Orphanet:93394)
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Brachydactyly type B
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(Orphanet:93383)
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Brachydactyly type C
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(Orphanet:93384)
|
Camptodactyly syndrome, Guadalajara type 2
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(Orphanet:1326)
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Distal monosomy 15q
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(Orphanet:1596)
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FEINGOLD SYNDROME 2
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(OMIM:614326)
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Familial digital arthropathy-brachydactyly
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(Orphanet:85169)
|
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT
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(OMIM:235830)
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Hand-foot-genital syndrome
|
(Orphanet:2438)
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Heart-hand syndrome type 3
|
(Orphanet:1342)
|
Metaphyseal chondrodysplasia, Schmid type
|
(Orphanet:174)
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Microcephalic osteodysplastic primordial dwarfism type 2
|
(Orphanet:2637)
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Microcephalic primordial dwarfism, Toriello type
|
(Orphanet:2643)
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Microphthalmia with brain and digit anomalies
|
(Orphanet:139471)
|
Muenke syndrome
|
(Orphanet:53271)
|
OCULODENTODIGITAL DYSPLASIA
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(OMIM:164200)
|
Postaxial polydactyly - dental and vertebral anomalies
|
(Orphanet:2916)
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Primordial short stature - microdontia - opalescent and rootless teeth
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(Orphanet:46658)
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Roifman syndrome
|
(Orphanet:353298)
|
SKELETAL DYSPLASIA WITH DELAYED EPIPHYSEAL AND CARPAL BONE OSSIFICATION
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(OMIM:182255)
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SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWEDZYGOMATIC ARCH
|
(OMIM:606895)
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Skeletal dysplasia - intellectual deficit
|
(Orphanet:1436)
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Wiedemann-Steiner syndrome
|
(Orphanet:319182)
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