Primary lymphoedemaGene: FBXL7
Homozygous deletion of exon 3 of FBXL7 (predicted to be in-frame) in a 2-year old with novel form of Hennekam syndrome. Each parent was heterozygous.
Patient had lymphedema, protein‐losing enteropathy, dental anomalies, camptodactyly, microtia, small auditory canals, ductive hearing loss, middle ear anomalies, bifid scrotum, and facial dysmorphic features including hypertelorism, telecanthus, epicanthal folds, downslanting palpebral fissures, broad and depressed nasal bridge, and thickened nasal alae.
Created: 4 Aug 2020, 10:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hennekam syndrome; lymphoedema
gene: FBXL7 was added gene: FBXL7 was added to Primary lymphoedema. Sources: Literature Mode of inheritance for gene: FBXL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FBXL7 were set to 31633297 Phenotypes for gene: FBXL7 were set to Hennekam syndrome; lymphoedema Review for gene: FBXL7 was set to RED