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Metadata
ID DOID:0080449
Name developmental and epileptic encephalopathy 16
Definition A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
https://www.ncbi.nlm.nih.gov/pubmed/21087195, https://www.ncbi.nlm.nih.gov/pubmed/23526554
Xrefs

OMIM:615338

ORDO:352596

Synonyms

DEE16 [EXACT]

early infantile epileptic encephalopathy 16 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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