* Phenotype mapping Key

1 => Disorder placed on map based on association with a gene; defect unknown
2 => Disorder placed by linkage; no mutation found
3 => Molecular basis known; mutation found in gene
4 => Contiguous gene deletion/duplication syndrome

Gene SymbolChromosomal LocationGene MIM numberMapping MethodPhenotypePhenotype MIM numberPhenotype Mapping Key
EYA18q13.3601653REc, Fd, ChBranchiootorenal syndrome 1, with or without cataracts, 113650 (3)1136503
EYA18q13.3601653REc, Fd, ChAnterior segment anomalies with or without cataract, 602588 (3)6025883
EYA18q13.3601653REc, Fd, ChBranchiootic syndrome 1, 602588 (3)6025883
EYA18q13.3601653REc, Fd, Ch?Otofaciocervical syndrome, 166780 (3)1667803