Neurology / Neuropediatrics
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Microcephaly 16, primary, AR (deletion/duplication analysis on ANKLE2 gene)
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Microcephaly 3, primary, AR (sequence analysis of CDK5RAP2 gene)
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Microcephaly 6, primary, AR (sequence analysis of CENPJ gene)
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Microcephaly 7, primary, AR (sequence analysis of STIL gene)
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Microcephaly 8, primary, AR (sequence analysis of CEP135 gene)
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Microcephaly 9, primary, AR (sequence analysis of CEP152 gene)
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Microcephaly and chorioretinopathy with or without mental retardation (deletion/duplication analysis on TUBGCP6)
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Microcephaly and chorioretinopathy with or without mental retardation (sequence analysis of TUBGCP6 gene)
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Microcephaly and pontocerebellar hypoplasia (NGS panel for 53 genes)
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Microcephaly with or without chorioretinopathy, lymphedema or mental retardation (sequence analysis of KIF11 gene)
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Microcephaly, epilepsy and diabetes syndrome (sequence analysis of IER3IP1 gene)
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Microcephaly, postnatal progressive, with seizures and brain atrophy (deletion/duplication analysis of MED17 gene)
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Microcephaly, primary AR (deletion/duplication analysis on ASPM, MCPH1, CDK5RAP2, CENPJ and STIL genes)
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Microcephaly, primary type 2, AR (duplication on exon 1 of WDR62 gene)
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Microcephaly, primary type 2, AR (sequence analysis of WDR62 gene)
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Microphthalmia syndromic 3 (deletion/duplication analysis on SOX2 gene)
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Microphthalmia syndromic 6 (sequence analysis of BMP4 gene)
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Microphthalmia syndromic 9 (deletion/duplicaton analysis on STRA6 gene)
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Microphthalmia, syndromic 3 (sequence analysis of SOX2 gene)
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Microphthalmia, syndromic type 1 (deletion/duplication analysis of NAA10 gene)
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