×

Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Short-Rib Thoracic Dysplasia 1,Polydact (SRTD1) skeletal,renal,hepatic,pancreatic,retinal problem Autosomal Recessive 15q13 - - - - - Morgan et al., 2003/2003