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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
Ectodermal-dysplasia-syndactyly syndrome (PVRL4) skin and its appendages affection Autosomal Recessive 1q23.3 Missense PVRL4 635C>G Pro212Arg Amino Acid Substitution Jelani et al., 2011/2011
Ectodermal-dysplasia-syndactyly syndrome (PVRL4) skin and its appendages affection Autosomal Recessive 1q23.3 Nonsense PVRL4 181C>T Asp61* Premature Termination Raza et al., 2015/2015
Ectodermal-dysplasia-syndactyly syndrome (PVRL4) skin and its appendages affection Autosomal Recessive 1q23.3 Missense PVRL4 242T>C Leu81Pro Amino Acid Substitution Ahmad et al., 2018/