Search Ontology:
Human Disease

developmental and epileptic encephalopathy 31B

Term ID
DOID:0070376
Synonyms
  • DEE31B
Definition
A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. https://pubmed.ncbi.nlm.nih.gov/34172529/
References
Ontology
Human Disease   ( DOID:0070376 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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