| Metadata | |
|---|---|
| ID | DOID:0111668 |
| Name | Kohlschutter-Tonz 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. https://www.ncbi.nlm.nih.gov/pubmed/22424600, https://www.ncbi.nlm.nih.gov/pubmed/22482807 |
| Xrefs |
SNOMEDCT_US_2023_03_01:109478007 |
| Subsets |
DO_rare_slim |
| Synonyms |
amelocerebrohypohidrotic syndrome [EXACT] epilepsy and yellow teeth [EXACT] epilepsy dementia amelogenesis imperfecta [EXACT] epilepsy-dementia-amelogenesis imperfecta syndrome [EXACT] Kohlschutter's syndrome [EXACT] KTZS [EXACT] |
| Parent Relationships |
is_a syndrome |