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Metadata
ID DOID:0070395
Name developmental and epileptic encephalopathy 110
Definition A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21.
https://pubmed.ncbi.nlm.nih.gov/35293990/
Xrefs

MIM:620149

Synonyms

DEE110 [EXACT]

early infantile epileptic encephalopathy 110 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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