Orphanet: X linked neurodegenerative syndrome, Bertini type

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Disease definition

An X-linked syndromic intellectual disability characterized by congenital ataxia and generalized hypotonia, global developmental delay with intellectual disability, myoclonic encephalopathy, progressive neurological deterioration, macular degeneration, and recurrent bronchopulmonary infections.

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X-linked neurodegenerative syndrome, Bertini type

ORPHA:85334

A summary on this disease is available in Español (2019) Français (2019) Italiano (2019) Nederlands (2019)

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