TMEM63B-related developmental and epileptic encephalopathy with anemia
Go to external page http://purl.obolibrary.org/obo/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. [ http://www.ncbi.nlm.nih.gov/pubmed/37421948 ]
Synonyms: TMEM63B-related DEE with anaemia TMEM63B-related developmental and epileptic encephalopathy with anaemia TMEM63B-related DEE with anemia
Term information
matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, harrisons_view_nervous_system_disorder