Neurology / Neuropediatrics
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Aarskog syndrome (sequence analysis of FGD1 gene)
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Abetalipoproteinemia (sequence analysis of MTTP gene)
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Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene)
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Aconitase deficiency (sequence analysis of ISCU gene)
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Acrofacial dysostosis, Weyers type (sequence analysis of 22 exon of EVC2 gene)
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ACTH-independent adrenal macronodular hyperplasia, type 2 (ARMC5)
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Acute intermittent porphyria (deletion/duplication analysis on HMBS gene)
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Acute necrotizing encephalopathy (sequence analysis of RANBP2 gene)
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Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
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Acyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene)
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Adams-Oliver syndrome (sequence analysis of DLL4 gene)
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Adenylosuccinase deficiency (sequence analysis of ADSL gene)
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Adrenoleukodystrophy (sequence analysis of ABCD1 gene)
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Agenesis of the corpus callosum with peripheral neuropathy (deletion/duplication analysis on SLC12A6 gene)
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Agenesis of the corpus callosum with peripheral neuropathy (sequence analysis of SLC12A6 gene)
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Aicardi syndrome (sequence analysis of OCEL1 gene)
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Aicardi syndrome (sequence analysis of TEAD1 gene)
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Aicardi-Goutieres syndrome (NGS panel of 7 genes)
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Aicardi-Goutieres syndrome 1 (deletion/duplication on TREX1 gene)
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Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 gene)
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