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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Urofacial syndrome (HPSE2) urological problems,inverted facial expression Autosomal Recessive 10q Missense HPSE2 631T>C Lys211His Amino Acid Substitution Mahmood et al., 2012/2012
Urofacial syndrome (HPSE2) urological problems,inverted facial expression Autosomal Recessive 10q Missense HPSE2 1628A>T Asn543Ile Amino Acid Substitution Mahmood et al., 2012/2012