Neurology / Neuropediatrics
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Limb-girdle myasthenia syndrome, familial (sequence analysis of AGRN gene)
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Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (deletion/duplication analysis on FLAD1 gene)
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Lipoamide dehydrogenase deficiency (p.GLy229Cys and p.Tyr35* mutations on DLD gene)
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Lipodystrophy, congenital Berardinelli-Seip type 4, with muscular dystrophy (sequence analysis of PTRF gene)
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Lissencephaly (deletion/ duplication analysis on PAFAH1B1, DCX, POMT1, POMGnT1 and FLNA genes)
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Lissencephaly 1 (LIS1, sequence analysis of PAFAH1B1 gene)
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Lissencephaly 2 (Norman-Roberts type) (deletion/duplication analysis on RELN gene)
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Lissencephaly 2, X-linked (deletion/duplication analysis on ARX gene)
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Lissencephaly 2, X-linked (sequence analysis of ARX gene)
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Lissencephaly 3 (sequence analysis of TUBA1A gene)
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Lissencephaly 5 (deletion/duplication analysis of LAMB1 gene)
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Lissencephaly 5 (sequence analysis of LAMB1 gene)
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Lissencephaly type 1, X-linked (sequence analysis of DCX gene)
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Lissencephaly type 4 (sequence analysis of NDE1 gene)
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Loeys-Dietz syndrome (sequence analysis of TGFBR1 and TGFBR2 genes)
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Loeys-Dietz syndrome type 4 (sequence analysis of TGFB2 gene)
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (E510Q mutation of HADHA gene)
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Lowe syndrome | Dent disease 2 (sequence analysis of OCRL gene)
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Lujan-Fryns syndrome (deletion/duplication analysis on MED12 gene)
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Lujan-Fryns syndrome (sequence analysis of MED12 gene)
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