Coarse facial features including Coffin-Siris-like disordersGene: HPGD
Comment when marking as ready: Most likely to present as a skeletal dysplasia rather than with coarse facial features
Created: 23 Nov 2016, 10:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Primary hypertrophic osteoarthropathy, 259100
This gene has been classified as Red List (Low Evidence).
This proposed gene was validated and added to this panel
HPGD was created by alicegardham
HPGD was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Literature