OBO ID: DOID:0111668
Term Name: Kohlschutter-Tonz syndrome Search Ontology:
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. (2)
References:
Ontology: Human Disease   (DOID:0111668)
OTHER Kohlschutter-Tonz syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ROGDI Kohlschutter-Tonz syndrome 226750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None