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Eagle-Barret syndrome (sequence analysis of CHRM3 gene)
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Early infantile epileptic encephalopathy ((EIEE1 sequence analysis of ARX gene)
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Early infantile epileptic encephalopathy 4 (sequence analysis of STXBP1 gene)
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Early infantile epileptic encephalopathy EIEE52 (deletion/duplication analysis on SCN1B gene)
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Early infantile epileptic encephalopathy type 10 (sequence analysis of PNKP gene)
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Early infantile epileptic encephalopathy type 12 (sequence analysis of PLCB1 gene)
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Early infantile epileptic encephalopathy type 5 (sequence analysis of SPTAN1 gene)
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Early-onset inflammatory bowel disease, AR (sequence analysis of IL10RA gene)
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Early-onset inflammatory bowel disease, AR (sequence analysis of IL10RB gene)
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Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis)
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Ectodermal dysplasia 1, hypohidrotic, X-linked (deletion/duplication analysis on EDA, EDAR, EDARADD and WNT10A genes)
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Ectodermal dysplasia 14, with or without hypohidrosis | Deafness, autosomal recessive 98 (deletion/duplication of TSPEAR gene)
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Ectodermal dysplasia and ectrodactyly (deletion/duplication analysis of TP63 gene)
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Ectodermal dysplasia and ectrodactyly (sequence analysis of TP63 gene)
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Ectodermal dysplasia, ectrodactyly and macular dystrophy (sequence analysis of CDH3 gene)
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Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome (deletion/duplication analysis of CDH3 gene)
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Ectrodactyly (WES based NGS panel of 10 genes, including CNV analysis)
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Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A1 gene)
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Ehlers-Danlos syndrome (deletion/duplication analysis of COL1A2 gene)
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Ehlers-Danlos syndrome (sequence analysis of FKBP14 gene)
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