Neurology / Neuropediatrics
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Machado Joseph disease (SCA3, CAG expansion on ATXN3 gene)
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Macrocephaly (NGS panel for 16 genes)
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Macrocephaly, dysmorphic facies, and psychomotor retardation (sequence analysis of HERC1 gene)
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Malformations of cortical development (lissencephaly, periventricular nodular heterotopia, polymicrogyria, megalencephaly-polymicrogyria and dysplastic megalencephaly) (NGS panel of 66 genes)
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Malignant hyperthermia (deletion/duplication in the RYR1 gene)
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Malonyl-CoA decarboxylase deficiency (sequence analysis of MLYCD gene)
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Mandibulofacial dysostosis with microcephaly (sequence analysis of EFTUD2 gene)
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Mannosidosis beta (deletion/duplication analysis of MANBA gene)
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Mannosidosis beta (sequence analysis of MANBA gene)
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Maple syrup urine disease (c.117del, p.Arg40Glyfs*23 mutation on BCKDHA gene)
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Maple syrup urine disease (sequence analysis of BCKDHB gene)
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Maple syrup urine disease type Ia (deletion/duplication analysis on BCKDHA gene)
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Maple syrup urine disease type Ia (sequence analysis of BCKDHA gene)
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Maple syrup urine disease type II (sequence analysis of DBT gene)
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Marinesco-Sjögren syndrome (sequence analysis of SIL1 gene)
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Martsolf syndrome (sequence analysis of RAB3GAP2 gene)
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Meckel syndrome (NGS panel of 13 genes)
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Meckel syndrome 10 (sequence analysis of B9D2 gene)
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Meckel syndrome 13 (sequence analysis of TMEM107 gene)
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Meckel syndrome 2 (sequence analysis of TMEM216 gene)
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