Introduction
Borjeson-Forssman-Lehmann syndrome is an extremely rare genetic condition with symptoms being very variable, even among members of the same family.
Symptoms
Borjeson-Forssman-Lehmann syndrome characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features.
Causes
Börjeson-Forssman-Lehman Syndrome caused by mutations in PHF6.
Prevalence
Unknown
Links
https://www.ebi.ac.uk/ols/ontologies/ORDO/terms?iri=http%3A%2F%2Fwww.orpha.net%2FORDO%2FOrphanet_127