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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Ichthyosis Congenital, CIE associated (ALOXE3) White ichthyotic scales Autosomal Recessive 17p13 Nonsense ALOXE3 418C>T Arg140* Premature Termination 0/Ullah et al., 2015
Ichthyosis Congenital, CIE associated (ALOXE3) White ichthyotic scales Autosomal Recessive 17p13 Gross Deletion ALOXE3 5299 bp deletion Complex rearrangement 0/Ullah et al., 2015
Nonbullous Congenital Ichthyosiform Erythroderma(ALOXE3) skin scaling,white scales Autosomal Recessive 17p13.1 Nonsense Mutation ALOXE3 2026C>T Q676X Nonesense Mutation and PTC 0/Rahman SB et.al.,,,2018