DOORS syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
DOORS syndrome. This is caused by mutations in the TBC1D24 gene in about 50% of cases. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the TBC1D24 gene in about 50% of cases
- The transmission is autosomal recessive
Major features
Locked: subscribe to see this section.
Other neurological features
Locked: subscribe to see this section.
Differential diagnosis: Coffin-Siris syndrome: features
Locked: subscribe to see this section.
References
- Campeau PM, Kasperaviciute D, Lu JT, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol 2014; 13:44-58.
- Campeau PM, Hennekam RC; DOORS syndrome collaborative group. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. Am J Med Genet C Semin Med Genet 2014; 166C:327-332.
