hydrocephaly-cerebellar agenesis syndrome

Overview

This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.

Available Treatments (0)

Clinical Presentation

Signs and symptoms associated with hydrocephaly-cerebellar agenesis syndrome, sourced from HPO and Orphanet clinical annotations.

Classification & Codes