Synonym(s): - Epilepsy - dementia - amelogenesis imperfecta - Kohlschutter-Tonz syndrome
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease Entire classification		Classification (ICD10): - Diseases of the nervous system - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ROGDI	Q9GZN7	614574

- Autosomal recessive inheritance
- Dental staining anomaly / spotted teeth / erythrodontia
- EEG anomalies
- Enamel anomaly
- Hypertonia / spasticity / rigidity / stiffness
- Psychic / psychomotor regression / dementia / intellectual decline
- Seizures / epilepsy / absences / spasms / status epilepticus

- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance

- Hydrocephaly
- Short stature / dwarfism / nanism