OnlineIMD
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Type
Phenotype
External link(s)
Orphanet
Associated genes
Gene list
POLR1A
Acrofacial dysostosis, Cincinnati type
POLR1B
Treacher Collins syndrome type 4
POLR1C
Treacher Collins syndrome type 3
Disease group(s)
16.5.1 RNA polymerase I disorders