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GENATLAS PHENOTYPE |
last update : 18-04-2014 |
Symbol | MRD23 |
Location | 3p25.3 |
Name | mental retardation, autosomal dominant 23 |
Corresponding gene | SETD5 |
Other symbol(s) | MRS1 |
Main clinical features | mental retardation, autism, faclal dysmorphy with synophrys and/or abnormal eyebrow upslanting or downslanting palpebral fissures, depressed nasal bridge, long philtrum, tnin upper lip, scoliosis or kyphosis, abdominal-wall anomalies , and feeding difficulties |
Genetic determination | autosomal dominant |
Function/system disorder | mental retardation |
osteo-articular | |
Type | disease |
Remark(s) |