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Metadata
ID DOID:0112209
Name developmental and epileptic encephalopathy 73
Definition A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1.
https://pubmed.ncbi.nlm.nih.gov/30595371/
Xrefs

OMIM:618379

Synonyms

DEE73 [EXACT]

early infantile epileptic encephalopathy 73 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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