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GENATLAS PHENOTYPE |
last update : 04-04-2012 |
Symbol | KSTS |
Location | 16p13.3 |
Name | Kohlschutter-Tonz syndrome |
Corresponding gene | ROGDI |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
dermatology | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| nonsense
|  
| truncated protein
| nonsense mutation (c.469C>T in exon 7) causing a premature stop codon (PMID: 22482807)
| |
Remark(s) |