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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 .