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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
Tyrosinemia type 1 (HT1, FAH) Inborn error of tyrosine catabolism Autosomal Recessive 15q25.1 FAH 192G>T 0/Ijaz et al., 2016
Tyrosinemia type 1 (HT1, FAH) Inborn error of tyrosine catabolism Autosomal Recessive 15q25.1 Splice site FAH 1062+5G>A IVS12+5G>A 0/Ijaz et al., 2016
Tyrosinemia type 1 (HT1, FAH) Inborn error of tyrosine catabolism Autosomal Recessive 15q25.1 Missense FAH 67T>C Ser23Pro Amino Acid Substitution 0/Ijaz et al., 2016