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Metadata
ID DOID:0080417
Name developmental and epileptic encephalopathy 38
Definition A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/27270415, https://www.ncbi.nlm.nih.gov/pubmed/25558065, https://pubmed.ncbi.nlm.nih.gov/32165008/
Xrefs

MIM:617020
Synonyms

DEE38 [EXACT]

early infantile epileptic encephalopathy 38 [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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