ARTHROGRYPOSIS, DISTAL, TYPE 1A
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(OMIM:108120)
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Acro-renal-mandibular syndrome
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(Orphanet:958)
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Autosomal dominant Emery-Dreifuss muscular dystrophy
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(Orphanet:98853)
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Autosomal dominant congenital benign spinal muscular atrophy
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(Orphanet:1216)
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Autosomal dominant multiple pterygium syndrome
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(Orphanet:65743)
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Autosomal recessive Emery-Dreifuss muscular dystrophy
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(Orphanet:98855)
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Autosomal recessive distal osteolysis syndrome
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(Orphanet:2776)
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Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
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(Orphanet:363543)
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BRUCK SYNDROME 2
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(OMIM:609220)
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Bethlem myopathy
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(Orphanet:610)
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Brachydactyly - elbow wrist dysplasia
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(Orphanet:1275)
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Branchio-oculo-facial syndrome
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(Orphanet:1297)
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Bruck syndrome
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(Orphanet:2771)
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CANDLE syndrome
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(Orphanet:325004)
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CEREBROOCULOFACIOSKELETAL SYNDROME 1
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(OMIM:214150)
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CHROMOSOME 17p13.1 DELETION SYNDROME
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(OMIM:613776)
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COFS syndrome
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(Orphanet:1466)
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COLD-INDUCED SWEATING SYNDROME 1
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(OMIM:272430)
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CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY
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(OMIM:616266)
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Carnitine palmitoyl transferase II deficiency, neonatal form
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(Orphanet:228308)
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Cerebro-costo-mandibular syndrome
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(Orphanet:1393)
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Cold-induced sweating syndrome
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(Orphanet:157820)
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Congenital contractural arachnodactyly
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(Orphanet:115)
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Connective tissue disorder due to lysyl hydroxylase-3 deficiency
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(Orphanet:300284)
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Cornelia de Lange syndrome
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(Orphanet:199)
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Digitotalar dysmorphism
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(Orphanet:1146)
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Distal arthrogryposis type 10
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(Orphanet:251515)
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Distal arthrogryposis type 5D
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(Orphanet:329457)
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Dyssegmental dysplasia - glaucoma
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(Orphanet:1804)
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Emery-Dreifuss muscular dystrophy
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(Orphanet:261)
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Faisalabad histiocytosis
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(Orphanet:254707)
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Frontometaphyseal dysplasia
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(Orphanet:1826)
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Gaucher disease type 2
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(Orphanet:77260)
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H syndrome
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(Orphanet:168569)
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Hurler syndrome
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(Orphanet:93473)
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Hurler-Scheie syndrome
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(Orphanet:93476)
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JMP syndrome
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(Orphanet:324999)
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KAHRIZI SYNDROME
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(OMIM:612713)
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KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
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(OMIM:148210)
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KID syndrome
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(Orphanet:477)
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Larsen-like syndrome, B3GAT3 type
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(Orphanet:284139)
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Lenz-Majewski hyperostotic dwarfism
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(Orphanet:2658)
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MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
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(OMIM:210710)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6
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(OMIM:608840)
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Microcephalic osteodysplastic primordial dwarfism types 1 and 3
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(Orphanet:2636)
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Mietens syndrome
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(Orphanet:2557)
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Nakajo-Nishimura syndrome
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(Orphanet:2615)
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PYCR1-related DeBarsy syndrome
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(Orphanet:293633)
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Phocomelia, Schinzel type
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(Orphanet:2879)
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Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome
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(Orphanet:254723)
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Proteasome disability syndrome
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(Orphanet:324977)
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ROBERTS SYNDROME
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(OMIM:268300)
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RUIJS-AALFS SYNDROME
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(OMIM:616200)
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Roberts syndrome
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(Orphanet:3103)
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Rosaï-Dorfman disease
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(Orphanet:158014)
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SECKEL SYNDROME 1
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(OMIM:210600)
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Scheie syndrome
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(Orphanet:93474)
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Seckel syndrome
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(Orphanet:808)
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Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
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(Orphanet:93358)
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Stüve-Wiedemann syndrome
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(Orphanet:3206)
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Van den Ende-Gupta syndrome
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(Orphanet:2460)
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WHISTLING FACE SYNDROME, RECESSIVE FORM
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(OMIM:277720)
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X-linked Emery-Dreifuss muscular dystrophy
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(Orphanet:98863)
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[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
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(OMIM:310300)
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