DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 16

Early infantile epileptic encephalopathy 16 [DOID:0080449]

An early infantile 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:  early infantile epileptic encephalopathy 16,  DOID:0080449