A 7 years old girl with a developmental delay, nystagmus and ADHD. She was born at full term via NSVD to a G9P6 SB2 40 years old mother following an uneventful pregnancy. The perinatal and postnatal histories were unremarkable, and she was discharged on the second day. The first concern was a developmental delay that was recognized in late infancy. She walked at 18 months, and she started saying mama and dada at 12 months, but she currently has less than 100 words vocabulary. She is not toilet trained. Her IQ was estimated to be 77. Her parents are consanguineous with a family history of a similar condition in two siblings and four cousins. Her father seems to be mildly affected. Her physical examination showed a thin body built, and other examinations were within normal limits. Her growth parameters at 7 years and 4 months were weight 16.1 kg (<3rd percentile), height 113.4 cm (3rd-10th percentile) and head circumference 53 cm (75th-90th percentile). Brain MRI showed thickened corpus callosum, mild cerebellar atrophy and small hippocampi.