TMEM63B-related developmental and epileptic encephalopathy with anemia

Definition

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.

Also known as TMEM63B-related DEE with anaemia, TMEM63B-related DEE with anemia, TMEM63B-related developmental and epileptic encephalopathy with anaemia — per MONDO