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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)