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.
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
TMEM63B-related DEE with anaemia
exact
TMEM63B-related DEE with anemia
exact
TMEM63B-related developmental and epileptic encephalopathy with anaemia
exact