hydrocephaly-cerebellar agenesis syndrome
X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome
exact
cerebellum agenesis hydrocephaly
related
hydrocephalus with cerebellar agenesis
related
This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a