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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
Cerebral Palsy Syndrome (AP4M1) Paraplegic CP with intellectual disability Autosomal Recessive 7q22.1 Deletion AP4M1 194_195delAT Lys65Phefs*50 Frame shift mutation & PTC Jameel et al., 2014/2014