During the neonatal period, variable combinations
of central nervous system, eye, and renal abnormalities. Agenesis of the
cerebellar vermix with cystic dilatation of the fourth ventricle and poor
respiratory control. Episodes of tachypnea attacks alternating with apneas.
Severe psychomotor retardation and ataxia. Abnormal eye movements and
bilateral coloboma. Abdominal ultrasonographs reveal cortical renal cysts
and interstitial renal fibrosis. Other malformations, including polydactyly
(fingers and toes), cleft lip/palate, tongue malformations, and seizures,
may exist. Renal function may deteriorate. Prognosis is poor.