01
At a glance
Association overview
02
Provenance
Evidence and sources
03
LOC126806961
The gene
04
Weyers Acrofacial Dysostosis
The disorder
05
Phenotype
Clinical features
06
ClinVar and variant evidence
Genetic basis
08
Provenance
The association between LOC126806961 (BRD4-Independent Group 4 Enhancer GRCh37_chr4:5641443-5642642) and Weyers Acrofacial Dysostosis is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.