Search Ontology:
Human Disease

Kohlschutter-Tonz syndrome

Term ID
DOID:0111668
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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