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ID	DOID:0051091
PURL	http://purl.obolibrary.org/obo/DOID_0051091 Copy Copied!
Name	developmental and epileptic encephalopathy 122
Definition	A developmental and epileptic encephalopathy that is characterized by infantile hypotonia, severe neurodevelopmental delay, intractable seizures, and distinct dysmorphic features and that has_material_basis_in homozygous mutation in the MDGA2 gene on chromosome 14q21. https://pubmed.ncbi.nlm.nih.gov/41570816/
Xrefs	MIM:621608
Parent Relationships	is_a developmental and epileptic encephalopathy is_a autosomal recessive disease
Subclass Logical Relationships	existence starts during some Infantile onset has material basis in some autosomal recessive inheritance