Disease-causing mutations in FBXO11 cause a syndrome characterized by developmental delay, behavioural problems, brain abnormalities, hypotonia (decreased muscle tone), minor skeletal abnormalities and sometimes congenital abnormalities. The syndrome is very rare with just over 40 individuals described in scientific literature till date.
Inheritance
The FBXO11-related neurodevelopmental disorder, caused by a microdeletion or a mutation of FBXO11, is inherited in an autosomal dominant manner, but to date almost all cases result from a de novo deletion or FBXO11 mutation. Thus, most affected individuals represent simplex cases, i.e., a single occurrence in a family. The recurrence risk for future pregnancies is low (probably <1%) but greater than that of the general population because of the possibility of germline mosaicism in one of the parents.
FBXO11