OBO ID: DOID:0111668 |
Term Name: | Kohlschutter-Tonz syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111668 ) |
OTHER Kohlschutter-Tonz syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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