| Phenotype details |
birth 37w2d, weight 2870 g; feeding difficulties; height 9-25 centile, weight 50centile, OFC 25-50 centile; walk-35m; fine and gross motor delay; hypotonia; speech delayed; autism; normal hearing, normal vision; Small chin, malar hypoplasia, dolicocephaly; MRI brain normal; normal renal USS, abnormal right pulmonary venous return |