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GENATLAS PHENOTYPE |
last update : 20-03-2013 |
Symbol | OHDO | |
Location | 10q22.2 | |
Name | Ohdo syndrome (Say-Barber-Biesecker variant) | |
Other name(s) | Say-Barber/Biesecker/Young-Simpson syndrome, Mental retardation, congenital heart disease, blepharophymosis, blepharoptosis and hyppoplastic teeth | |
Corresponding gene | KAT6B | |
Other symbol(s) | SBBYSS | |
Main clinical features |
| |
Genetic determination | autosomal dominant | |
Function/system disorder
Type
| MCA/MR
| |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| truncated protein
| de novo truncating mutations, clustering in the final exon of the gene
| |
Remark(s) |