Neurology / Neuropediatrics
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Cornelia de Lange syndrome 5 (deletion/duplication analysis on HDAC8 gene)
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Cornelia de Lange syndrome 5 (sequence analysis of HDAC8 gene)
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Corpus callosum agenesis - cataract - immunodeficiency (sequence analysis of EPG5 gene)
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Corpus callosum agenesis of with mental retardation, ocular coloboma and micrognathia (sequence analysis of IGBP1 gene)
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Cortical dysplasia, complex with other brain malformations 5 (sequence analysis of TUBB2A gene)
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Cortical dysplasia, complex, with other brain malformations 2 (sequence analysis of KIF5C gene)
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Cortical dysplasia, complex, with other brain malformations 3 (sequence analysis of KIF2A gene)
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Cortical dysplasia, complex, with other brain malformations 4 (sequence analysis of TUBG1 gene)
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Cortical dysplasia, complex, with other brain malformations 6 (sequence analysis of TUBB gene)
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Cortical dysplasia-focal epilepsy syndrome (sequence analysis of CNTNAP2 gene)
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Cortical dysplasia-focal epilepsy syndrome | Pitt-Hopkins like syndrome 1 (deletion/duplication analysis on CNTNAP2 gene)
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Cortical malformations, occipital (sequence analysis of LAMC3 gene)
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Craniofacial-ulnar-renal syndrome (sequence analysis of MASP1 gene)
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Craniofrontonasal dysplasia (deletion/duplication analysis on EFNB1 gene)
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Craniofrontonasal dysplasia (sequence analysis of EFNB1 gene)
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Craniosynostosis 1 |Robinow-Sorauf syndrome | Saethre-Chotzen syndrome|Sweeney-Cox syndrome (sequence analysis of TWIST1 gene)
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Creatine deficiency syndrome (sequence analysis of SLC6A8 gene)
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Creutzfeldt-Jakob disease (sequence analysis of PRNP gene)
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Crigler Najjar syndrome types 1 and 2 (sequence analysis of UGT1A1 gene)
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Crouzon syndrome (deletion/duplication analysis of FGFR2 gene)
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