Kohlschutter-Tonz syndrome (DOID:0111668)
Alliance: disease page
Synonyms: amelocerebrohypohidrotic syndrome; epilepsy and yellow teeth; epilepsy dementia amelogenesis imperfecta; epilepsy-dementia-amelogenesis imperfecta syndrome; Kohlschutter's syndrome; KTZS
Alt IDs: OMIM:226750, MESH:C537213, ORDO:1946, UMLS_CUI:C0406740
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.