Disease association ontology term - MONDO:0009185 - amelocerebrohypohidrotic syndrome
Term summary
- ID
- MONDO:0009185
- Name
- amelocerebrohypohidrotic syndrome
- Ontology or CV name
- Disease association
- Definition
- Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.
