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GENATLAS PHENOTYPE
last update : 07-11-2012
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 mutationChromosome rearrangementEffectComments
  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 .