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Hydrocephaly-cerebellar agenesis syndrome
MONDO:0010612This syndrome is characterized by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported.
Also known as: X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome, cerebellum agenesis hydrocephaly, hydrocephalus with cerebellar agenesis
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