X-linked mental retardation with characteristics of Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set a
syndroom van malformatie van hersenen, ernstige verstandelijke beperking, ectodermale dysplasie, deformiteit van skelet, malformatie van oor en/of oog en dysplasie van nier