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| GENATLAS PHENOTYPE |
| last update : 19-12-2019 |
| Symbol | HARTS |
| Location | Xq24 |
| Name | Hartsfield syndrome |
| Corresponding gene | SLC25A43 , SLC25A5 |
| Main clinical features | holoprosencephaly, ectrodactyly and cleft lip/palate |
| Genetic determination | sex linked |
| chromosomal | |
| Function/system disorder | |
| Type | malformation |
| Mechanism(s) |
| Gene mutation | Chromosome rearrangement | Effect | Comments | |
|---|---|---|---|---|
| duplication | microduplication of 210 kb at Xq24, PMID: 22887648 |
| Remark(s) | the duplications of SLC25A43 and SLC25A5 appeared to be the most likely to explain the patient's phenotype PMID: 22887648 . |