Human genes for developmental and epileptic encephalopathy 16
Developmental and epileptic encephalopathy 16 [DOID:0080449]
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.
Synonyms: developmental and epileptic encephalopathy 16, DOID:0080449, DEE16, early infantile epileptic encephalopathy 16