15q11q13 microduplication syndrome
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(Orphanet:238446)
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AUTISM
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(OMIM:209850)
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AUTISM, SUSCEPTIBILITY TO, 3
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(OMIM:608049)
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AUTISM, SUSCEPTIBILITY TO, 8
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(OMIM:607373)
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AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
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(OMIM:300425)
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AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
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(OMIM:300495)
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AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
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(OMIM:300496)
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Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
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(Orphanet:209341)
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Autosomal dominant limb-girdle muscular dystrophy type 1C
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(Orphanet:265)
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Autosomal dominant nonsyndromic sensorineural deafness type DFNA
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(Orphanet:90635)
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Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
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(Orphanet:217055)
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Autosomal recessive limb-girdle muscular dystrophy type 2J
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(Orphanet:140922)
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Autosomal recessive lower motor neuron disease with childhood onset
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(Orphanet:206580)
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Autosomal recessive spastic paraplegia type 11
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(Orphanet:2822)
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Autosomal recessive spastic paraplegia type 20
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(Orphanet:101000)
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Autosomal recessive spastic paraplegia type 32
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(Orphanet:171622)
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CONE-ROD DYSTROPHY 1
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(OMIM:600624)
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CONE-ROD DYSTROPHY 6
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(OMIM:601777)
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Charcot-Marie-Tooth disease type 1E
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(Orphanet:90658)
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Cherubism
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(Orphanet:184)
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Childhood absence epilepsy
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(Orphanet:64280)
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DEAFNESS, AUTOSOMAL RECESSIVE 15
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(OMIM:601869)
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DEAFNESS, AUTOSOMAL RECESSIVE 8
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(OMIM:601072)
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DEAFNESS, MID-TONE NEURAL
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(OMIM:124700)
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DEAFNESS, X-LINKED 4
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(OMIM:300066)
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DIAMOND-BLACKFAN ANEMIA 13
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(OMIM:615909)
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DYSTONIA WITH RINGBINDEN
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(OMIM:224550)
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Distal arthrogryposis type 10
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(Orphanet:251515)
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Duchenne muscular dystrophy
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(Orphanet:98896)
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EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT
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(OMIM:612998)
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EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
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(OMIM:612999)
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EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
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(OMIM:607681)
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EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3
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(OMIM:613608)
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EPIPHYSEAL DYSPLASIA, MULTIPLE, 6
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(OMIM:614135)
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Erythropoietic protoporphyria
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(Orphanet:79278)
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FEBRILE SEIZURES, FAMILIAL, 1
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(OMIM:121210)
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FEBRILE SEIZURES, FAMILIAL, 4
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(OMIM:604352)
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FEBRILE SEIZURES, FAMILIAL, 5
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(OMIM:609255)
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FEBRILE SEIZURES, FAMILIAL, 6
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(OMIM:609253)
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Facioscapulohumeral dystrophy
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(Orphanet:269)
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Familial idiopathic steroid-resistant nephrotic syndrome
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(Orphanet:656)
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Fatal familial insomnia
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(Orphanet:466)
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GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
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(OMIM:604403)
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GRANULOSIS RUBRA NASI
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(OMIM:139000)
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Gelatinous drop-like corneal dystrophy
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(Orphanet:98957)
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Gräsbeck-Imerslund disease
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(Orphanet:35858)
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Hereditary motor and sensory neuropathy type 5
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(Orphanet:64751)
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Hip dysplasia, Beukes type
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(Orphanet:2114)
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Juvenile primary lateral sclerosis
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(Orphanet:247604)
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Laing distal myopathy
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(Orphanet:59135)
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Loose anagen syndrome
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(Orphanet:168)
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MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
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(OMIM:255700)
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Mohr-Tranebjaerg syndrome
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(Orphanet:52368)
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NEPHROTIC SYNDROME, TYPE 3
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(OMIM:610725)
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OCULAR MYOPATHY WITH CURARE SENSITIVITY
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(OMIM:257600)
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PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
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(OMIM:300752)
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Paroxysmal non-kinesigenic dyskinesia
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(Orphanet:98810)
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Posterior column ataxia - retinitis pigmentosa
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(Orphanet:88628)
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TELANGIECTASIA, HEREDITARY BENIGN
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(OMIM:187260)
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THROMBOPHILIA DUE TO THROMBIN DEFECT
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(OMIM:188050)
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Triple A syndrome
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(Orphanet:869)
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VITILIGO, PROGRESSIVE, WITH MENTAL RETARDATION AND URETHRAL DUPLICATION
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(OMIM:277465)
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X-linked Charcot-Marie-Tooth disease type 5
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(Orphanet:99014)
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Xeroderma pigmentosum complementation group C
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(Orphanet:276255)
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[DEL]EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
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(OMIM:310300)
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