| Phenotype details |
see paper; ..., OFC +0.8 SDS; height +0.5 SDS; feeding difficulties, gastroesophageal reflux; no kyphoscoliosis; developmental delay; language impairment; border line intellectual disability; no seizures; no spasticity, no dystonia; steady gait; autism spectrum disorder, severe anxiety, attention-deficit hyperactivity disorder, OCD, vocal tics |