ARTHROGRYPOSIS, CONGENITAL, LOWER LIMB, X-LINKED
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(OMIM:300158)
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Autosomal dominant congenital benign spinal muscular atrophy
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(Orphanet:1216)
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Autosomal recessive cerebelloparenchymal disorder type 3
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(Orphanet:1170)
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Benign adult familial myoclonic epilepsy
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(Orphanet:86814)
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CAMOS syndrome
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(Orphanet:83472)
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Classic multiminicore myopathy
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(Orphanet:324604)
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Congenital hereditary facial paralysis with variable hearing loss
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(Orphanet:306530)
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DEAFNESS, AUTOSOMAL RECESSIVE 42
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(OMIM:609646)
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Dysequilibrium syndrome
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(Orphanet:1766)
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EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
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(OMIM:607876)
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EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
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(OMIM:613608)
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EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4
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(OMIM:615127)
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FACIAL PARESIS, HEREDITARY CONGENITAL, 3
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(OMIM:614744)
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HEMATURIA, BENIGN FAMILIAL
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(OMIM:141200)
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Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
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(Orphanet:284332)
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Isolated hereditary congenital facial paralysis
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(Orphanet:306527)
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MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY
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(OMIM:608931)
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Meesmann corneal dystrophy
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(Orphanet:98954)
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Moderate multiminicore disease with hand involvement
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(Orphanet:178145)
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NEUROPATHY, CONGENITAL, WITH ARTHROGRYPOSIS MULTIPLEX
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(OMIM:162370)
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NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
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(OMIM:193003)
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X-linked non progressive cerebellar ataxia
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(Orphanet:314978)
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X-linked progressive cerebellar ataxia
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(Orphanet:1175)
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