hydrocephaly-cerebellar agenesis syndrome
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
X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome
exact
cerebellum agenesis hydrocephaly
related
hydrocephalus with cerebellar agenesis
related