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Up to: Genetic developmental and epileptic encephalopathy
TMEM63B-related developmental and epileptic encephalopathy with anemia
A developmental and epileptic encephalopathy caused by variation in the TMEM63B gene. This disorder is characterised by early-onset drug-resistant epilepsy, with moderate-to-profound intellectual disability, severe motor impairment and brain structural anomalies. Most patients present early generalised hypotonia, nystagmus and central visual impairment, severe dysphagia and haematological abnormalities.
This condition has no sub-types.