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Metadata
ID	DOID:0070376
Name	developmental and epileptic encephalopathy 31B
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/
Xrefs	MIM:620352
Synonyms	DEE31B [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease