Neurology / Neuropediatrics
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Multiple congenital anomalies-hypotonia-seizures syndrome 1 (sequence analysis of PIGN gene)
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Multisystemic smooth muscle dysfunction syndrome (sequence analysis of ACTA2 gene)
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Muscle-eye-brain disease (sequence analysis of POMGNT1 gene)
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Muscular dystrophy type 1C, congenital (sequence analysis of FKRP gene)
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Muscular dystrophy, congenital, due to ITGA7 deficiency (sequence analysis of ITGA7 gene)
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Muscular dystrophy, congenital, megaconial type (sequence analysis of CHKB gene)
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Muscular dystrophy, lamin/merosin deficiency (sequence analysis of LAMA2 gene)
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Muscular dystrophy, limb-girdle (deletion/duplication analysis on ANO5 gene)
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Muscular dystrophy, limb-girdle (sequence analysis of TNPO3 gene)
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Muscular dystrophy, limb-girdle, autosomal recessive 12 | Miyoshi muscular dystrophy 3 | Gnathodiaphyseal dysplasia (LGMD2L, sequence analysis of ANO5 gene)
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Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 (sequence analysis of LARGE gene)
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Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 (sequence analysis of DAG1 gene)
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Muscular dystrophy-dystroglycanopathy, type C, 14 (sequence analysis of GMPPB gene)
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Myasthenia congenital with tubular aggregates 1 (sequence analysis of GFPT1 gene)
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Myasthenia, congenital (deletion/duplication analysis on DOK7 gene)
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Myasthenia, congenital (sequence analysis of DOK7 gene)
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Myasthenic congenital syndrome (sequence analysis of CHRNE gene)
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Myasthenic syndrome associated with acetylcholine receptor deficiency (sequence analysis of MUSK gene)
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Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)
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Myasthenic syndrome fast channel congenital (sequence analysis of CHRND gene)
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