| Phenotype details |
see paper; ..., birth 41w, 23w-intra uterine growth retardation, neonatal sepsis; weight 1st (-2.4SD), height <1st (-3.2SD), OFC <1st (-3.3SD); motor delay; speech delay; prominent forehead, deep-set eyes, short palpebral fissures, small chin; poor feeding; hypotonia; no velopharyngeal insufficiency; hypospadias |