Term Name: developmental and epileptic encephalopathy 16
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.
Ontology: Human Disease [DOID:0080449]   ( DOID:0080449 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy