ALDH18A1-related De Barsy syndrome
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(Orphanet:35664)
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Cerebro-facio-articular syndrome
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(Orphanet:314679)
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De Barsy syndrome
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(Orphanet:2962)
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Hereditary hypophosphatemic rickets with hypercalciuria
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(Orphanet:157215)
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Hurler-Scheie syndrome
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(Orphanet:93476)
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Hypospadias - hypertelorism - coloboma and deafness
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(Orphanet:157788)
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Infantile hypophosphatasia
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(Orphanet:247651)
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Leprechaunism
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(Orphanet:508)
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Neonatal hemochromatosis
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(Orphanet:446)
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Nestor-Guillermo progeria syndrome
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(Orphanet:280576)
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OSTEOGENESIS IMPERFECTA, TYPE VII
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(OMIM:610682)
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PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
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(OMIM:214100)
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Parietal foramina with cleidocranial dysplasia
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(Orphanet:251290)
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Perinatal lethal hypophosphatasia
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(Orphanet:247623)
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Renal tubular dysgenesis
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(Orphanet:3033)
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Renal tubular dysgenesis of genetic origin
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(Orphanet:97369)
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VAN MALDERGEM SYNDROME 1
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(OMIM:601390)
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VAN MALDERGEM SYNDROME 2
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(OMIM:615546)
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VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
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(OMIM:264700)
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VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
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(OMIM:600081)
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VITAMIN D-DEPENDENT RICKETS, TYPE 2A
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(OMIM:277440)
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