Page 63 - Demo

Parkinsonism in GNDs612syndrome” to avoid hits with the word “down”, “weaver” (index/technique) and “Cohen” (-kappa) in another meaning. 5. Removal of “syndrome” after the term “intellectual disability”, e.g. “Spastic paraplegia glaucoma intellectual disability syndrome”6. Simplification of descriptive search terms:“Partial deletion of the short arm of chromosome 7”  “7p deletion”“Partial trisomy/tetrasomy of the short arm of chromosome 9” ”trisomy 9p” OR “tetrasomy 9p”Terms not found in the search database and replaced** by synonym (n=4) derived from Orphanet: “Thyrocerebrorenal syndrome”  “Cutler Bass Romshe” “Amelocerebrohypohidrotic syndrome” “Kohlschütter Tönz”“Autosomal recessive cerebelloparenchymal disorder type 3”  “Autosomal recessive spinocerebellar ataxia type 2”“Osteoglophonic dysplasia” ”Osteoglophonic dwarfism”**An exception for these disorders was made because of an error that resulted in the search of only the word “syndrome” or “disorder” or “dysplasia”