| Phenotype details |
see paper; ..., birth 39w, weight 0SD; 2y-weight 0SD, 7y-length -0.5SD, 8y-OFC +1.8SD; mild intellectual disability/developemental delay; no seizures; motor delay; 20m-walk; speech delay; 42m-first words; no autistic behaviour ; no hyperactivity; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip |