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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-10-2009
Symbol HLHS3
Location 1q32.3
Name hypoplastic left heart syndrome, PROX1 related
Corresponding gene PROX1
Genetic determination chromosomal
Prevalence 1 case
Function/system disorder cardiovascular
Type malformation
Gene mutationChromosome rearrangementEffectComments
  translocation   separation of the PROX gene from upstream conserved elements in a complex inversion/translocation patient
Remark(s) to be confirmed (1 case reported)