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| GENATLAS PHENOTYPE |
| last update : 07-12-2019 |
| Symbol | JMS |
| Location | Xq13.3 |
| Name | Juberg-Marsidi syndrome |
| Other name(s) | mental retardation-hypotonic facies syndrome |
| Corresponding gene | ATRX |
| Main clinical features |
|
| Genetic determination | sex linked |
| Function/system disorder | metabolism/porphyrin and heme |
| mental retardation | |
| sex-genitalia | |
| Type | disease |
| Gene product |
| Name | transcriptional regulator XH2 (ATRX) |
| Remark(s) | no mutations in the ATRX gene have been reported in the original families, thus allelism with ATRX syndrome is not proven |