Term Name:	Kohlschutter-Tonz syndrome
Synonyms:	amelocerebrohypohidrotic syndrome, epilepsy and yellow teeth, epilepsy dementia amelogenesis imperfecta, epilepsy-dementia-amelogenesis imperfecta syndrome, Kohlschutter's syndrome, KTZS
Definition:	A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.
Ontology:	Human Disease [DOID:0111668]   ( DOID:0111668 )