Patient 5 was a 17-year-old girl, born as the second of three children to non-consanguineous Norwegian parents. The mother had Sjogren syndrome. The pregnancy was complicated by episodes of maternal bleeding. Delivery was normal, with the following birth measures: weight 3800 g, length 52 cm (both at the 75th centile) and OFC unknown. She walked independently at 14 months, and developed the stereotypic habit of constantly walking around. At 3 years and 3 months she showed delayed language and motor development, and hyperactivity. Testing with Bayley-II gave a Mental Developmental Index of 55, corresponding to a developmental age of approximately 2 years. Her language development was particularly delayed, and she lacked concentration and impulse control. At 8 years WISC-R gave an IQ of 60. A recent testing with WISC-IV gave an IQ slightly below 70, and Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV) and other tests were in accordance with this, indicating mild intellectual disability (IQ 50-69). She attended a school for children with learning disabilities. A cerebral MRI examination at 6 years was normal. She has had episodes of uncontrolled anger outbursts, sometimes with violent behaviour, and at age 14 she had a psychotic episode. Over the years she has displayed stereotypic behaviour such as chewing on her fingers, but she has not been considered as having ASDs. At the last examination, at age 17 years, she was obese with a Body Mass Index (BMI) of 30.6 and height 162.5 cm (25th centile). She had a mild unsteadiness when standing with her eyes closed. Muscle tone was normal. Hearing and vision were normal. Testing for fragile X syndrome and work up for detection of abnormal metabolites in the urine were normal. Dysmorphic features were not noted (consent to publish photos of this patient was not obtained).