Neurology / Neuropediatrics
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Mowat-Wilson syndrome (sequence analysis of ZEB2 gene)
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Moyamoya disease (deletion/duplication analysis on RNF213 gene)
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Moyamoya disease (NGS panel of 3 genes)
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Moyamoya disease (sequence analysis of CCER2 gene)
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Moyamoya disease (sequence analysis of RNF213 gene)
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Moyamoya disease 5 (sequence analysis of ACTA2 gene)
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Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene)
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Mucolipidosis type III gamma (sequence analysis of GNPTG gene)
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Mucolipidosis type IV (sequence analysis of MCOLN1 gene)
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Mucopolysaccharidosis type 3B | Charcot-Marie-Tooth disease type 2V (deletion/duplication analysis of NAGLU gene)
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Mucopolysaccharidosis type 3B | Charcot-Marie-Tooth disease type 2V (sequence analysis of NAGLU gene)
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Mucopolysaccharidosis type Ih (deletion/duplication analysis of IDUA gene)
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Mucopolysaccharidosis type IIIA (Sanfilippo A, sequence analysis of SGSH gene)
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Mucopolysaccharidosis type IIID (sequence analysis of GNS gene)
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Mucopolysaccharidosis type VII (deletion/duplication analysis of GUSB gene)
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Muenke syndrome (Pro250Arg mutation on FGFR3 gene)
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Mulibrey nanism (sequence analysis of TRIM37 gene)
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Multiple congenital anomalies-hypotonia-seizures syndrome 1 (deletion/duplication analysis on PIGN gene)
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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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