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DOID:0111668 - Kohlschutter-Tonz syndrome
Disease Ontology 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.
Synonyms: KTZS, Kohlschutter's syndrome, amelocerebrohypohidrotic syndrome, epilepsy and yellow teeth, epilepsy dementia amelogenesis imperfecta, epilepsy-dementia-amelogenesis imperfecta syndrome,
Echinobase Genes
:
rogdi
| MIM:226750 - kohlschutter-tonz syndrome; ktzs |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)