Growth retardation due to haplotype FH2
Phenotype Details
- Phene ID
- 3768
- Name
- Growth retardation due to haplotype FH2
- Phene Name
- N/A
- OMIA ID
- 1958
- Species ID
- 9913
- Characterised
- No
- Characterised Year
- N/A
Molecular Genetics
Frameshift indel: c.771_778delTTGAAAAGinsCATC (rs379675307) in SLC2A2 that encodes glucose transporter 2 (GLUT2)(Pausch et al., 2015). Burgstaller et al. (2016) have provided strong evidence that this FH2 frameshift mutation is actually causative of Fanconi-Bickel syndrome (OMIA 000366-9913). Accordingly, the likely causal mutation is now listed under this disorder rather than in this entry.