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Metadata
ID DOID:0070375
Name developmental and epileptic encephalopathy 64
Definition A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21.
https://pubmed.ncbi.nlm.nih.gov/29276004/, https://pubmed.ncbi.nlm.nih.gov/37090824/, https://pubmed.ncbi.nlm.nih.gov/29768694/, https://pubmed.ncbi.nlm.nih.gov/33504645/
Xrefs

MIM:618004
Synonyms

DEE64 [EXACT]

early infantile epileptic encephalopathy 64 [EXACT]
Parent Relationships

is_a autosomal dominant disease

is_a developmental and epileptic encephalopathy
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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