1. Genes and Genomic Entities
  2. FBXL3

FBXL3

F-box and leucine rich repeat protein 3
OMIM: 605653, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green FBXL3 in Intellectual disability


Level 2: Developmental disorders
Version 9.397
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review
    • Literature
    Phenotypes
    • Short stature
    • Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220
    • Intellectual disability