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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
Neuro-ichthyotic Syndrome (ELOVL4) ichthyosis,quadriplegia,intellectual disability Autosomal Recessive 6p14.1 Nonsense ELOVL4 78C>G Tyr26* Premature Termination Mir et al., 2014/2014