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Kohlschutter-Tonz syndrome
Summary
- Synonym
-
- KTZS
- Kohlschutter's syndrome
- amelocerebrohypohidrotic syndrome
- epilepsy and yellow teeth
- epilepsy dementia amelogenesis imperfecta
- epilepsy-dementia-amelogenesis imperfecta syndrome
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111668
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
