Preferred gene-related syndrome label
TMEM63B-related developmental and epileptic encephalopathy with anaemia

Synonyms

Parent term (use OLS, or your favorite ontology browser)
MONDO_0100062

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.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
PMID:37421948

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group
0000-0002-0987-9862

Additional comments
Request from the G2P team (EMBL-EBI)