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Metadata
ID DOID:0070392
Name developmental and epileptic encephalopathy 106
Definition A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35.
https://pubmed.ncbi.nlm.nih.gov/33473208/
Xrefs

MIM:620028

Synonyms

DEE106 [EXACT]

early infantile epileptic encephalopathy 106 [EXACT]

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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