PhenomeGene — Human Disease Gene Website SeriesFBXO11

Professionals

Based on the individuals described in literature, the main clinical features manifested by FBXO11haploinsufficiency include developmental delay, behavioural problems, brain abnormalities, seizures, hypotonia, vision problems, gastro-intestinal problems, dysmorphic features and incidentally congenital malformations involving the heart or urogenital system and cleft lip or palate.