Phenotype details |
Atrial septal defect; soft skin; joint hyper mobility; Bilateral microphthalmos; Unilateral excavation of optic disc; unilateral morning glory anomaly; optic nerve coloboma; Right orbital retrobulbar cystic mass.; unilateral multicystic dysplastic kidney, Unilateral hypoplastic kidney, Vesicoureteral reflux; prenatal unilateral multicystic kidney |