TMEM63B-related developmental and epileptic encephalopathy with anemia
Findings
No curated finding names TMEM63B-related developmental and epileptic encephalopathy with anemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 from the Mondo Disease Ontology (MONDO:0800503), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TMEM63BHGNC:17735
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: TMEM63B-related developmental and epileptic encephalopathy with anemia
- Also called
- TMEM63B-related DEE with anaemiaTMEM63B-related DEE with anemiaTMEM63B-related developmental and epileptic encephalopathy with anaemia