developmental and epileptic encephalopathy 16

Term ID

DOID:0080449

Synonyms

• DEE16
• early infantile 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. (2)

References

• OMIM:615338
• ORDO:352596

Ontology

Human Disease   ( DOID:0080449 )