X-linked neurodegenerative syndrome, Bertini type

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.

Disease data

Classification

Disease

ORPHA code

85334

OMIM code

ICD10 code

G31.8

ICD11 code

*Soruce