ARMS, MALFORMATION OF
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(OMIM:107900)
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Acro-renal-mandibular syndrome
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(Orphanet:958)
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Acro-renal-ocular syndrome
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(Orphanet:959)
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Acrocapitofemoral dysplasia
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(Orphanet:63446)
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Acromesomelic dysplasia, Grebe type
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(Orphanet:2098)
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Acromesomelic dysplasia, Hunter-Thomson type
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(Orphanet:968)
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Alagille syndrome due to 20p12 microdeletion
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(Orphanet:261600)
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Alagille syndrome due to a JAG1 point mutation
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(Orphanet:261619)
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Atrioventricular defect - blepharophimosis -radial defects
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(Orphanet:1352)
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BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
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(OMIM:609945)
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Baller-Gerold syndrome
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(Orphanet:1225)
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Brachydactyly type A6
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(Orphanet:93382)
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CHARGE syndrome
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(Orphanet:138)
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CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES
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(OMIM:609441)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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Cenani-Lenz syndrome
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(Orphanet:3258)
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DIAMOND-BLACKFAN ANEMIA 11
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(OMIM:614900)
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Fibulo-ulnar hypoplasia - renal anomalies
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(Orphanet:2256)
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HYPOPROTEINEMIA, HYPERCATABOLIC
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(OMIM:241600)
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Holoprosencephaly - radial heart renal anomalies
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(Orphanet:3186)
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Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome
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(Orphanet:369837)
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Jeune syndrome
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(Orphanet:474)
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Lacrimo-auriculo-dento-digital syndrome
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(Orphanet:2363)
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Langer mesomelic dysplasia
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(Orphanet:2632)
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Lethal chondrodysplasia, Seller type
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(Orphanet:1421)
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Lethal faciocardiomelic dysplasia
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(Orphanet:1972)
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Léri-Weill dyschondrosteosis
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(Orphanet:240)
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MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35
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(OMIM:615162)
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Mesomelic dwarfism, Reinhardt-Pfeiffer type
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(Orphanet:2634)
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Microgastria - limb reduction defect
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(Orphanet:2538)
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Okihiro syndrome
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(Orphanet:93293)
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Postaxial acrofacial dysostosis
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(Orphanet:246)
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SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB
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(OMIM:615087)
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SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
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(OMIM:612447)
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SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL
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(OMIM:602613)
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Short-rib thoracic dysplasia 3 with or without polydactyly
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(OMIM:613091)
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Spondyloperipheral dysplasia - short ulna
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(Orphanet:1856)
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Ulnar hypoplasia - split foot
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(Orphanet:1122)
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Ulnar-mammary syndrome
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(Orphanet:3138)
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W syndrome
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(Orphanet:2804)
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