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Metadata
ID DOID:0051083
PURL http://purl.obolibrary.org/obo/DOID_0051083 Copy
Name developmental and epileptic encephalopathy 111
Definition A developmental and epileptic encephalopathy that is characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech and that has_material_basis_in homozygous mutation in the DEPDC5 gene on chromosome 22q12.
https://pubmed.ncbi.nlm.nih.gov/36067010/
Xrefs

MIM:620504

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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