Presentation
In some cases there may be no unique facial features present or obvious. Middle interhemispheric variant: when the brain fuses in the middle. [fdna.health]
Genet. 89:231-240(2011) Cited for: VARIANTS HPE11 SER-684; ALA-689; MET-691; GLU-780; ALA-790 AND ARG-940; Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [web.expasy.org]
Face, Head & Neck
- Median Cleft Lip
cleft lip/palate, absent columella, cryptochidism CDON CDON 1 1 Johan den Dunnen 00117731 - PubMed: Bae 2011 - - - - - - - - - HPE11 alobar HPE findings CDON CDON 1 1 Johan den Dunnen 00117732 - PubMed: Bae 2011 - - - - - - - - - HPE11 - CDON CDON 1 [databases.lovd.nl]
Treatment
Legend How to query Individual ID ID_report Reference Remarks Gender Consanguinity Country Population Age at death VIP Data_av Treatment Disease Phenotype details Genes screened Variants in genes Variants Panel size Owner 00117724 - PubMed: Bae 2011 - [databases.lovd.nl]
They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]