has material basis in germline mutation in TMEM63B genetic developmental and epileptic encephalopathy TMEM63B-related developmental and epileptic encephalopathy with anemia https://github.com/monarch-initiative/mondo/issues/8159 MONDO:0800503 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. TMEM63B-related DEE with anemia TMEM63B-related developmental and epileptic encephalopathy with anaemia GARD:0027306 TMEM63B-related DEE with anaemia