Potocki-shaffer syndrome

Log in to bookmark this disease

Bookmark This Disease

Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
POTOCKI-SHAFFER SYNDROME
52022MONDO:0011022
ALX4 Unknown
15852040
Orphanet —
EXT2 Unknown
15852040
Orphanet
PHF21A Unknown
22770980 36876344 36843358
GWAS catalog, Orphanet
All3 Causal0 Unknown3
Related Diseases Diseases that share the most curated genes with Potocki-shaffer syndrome.
5 View disease cluster →
11p11.2 deletion syndrome 3 shared genesALX4, EXT2, PHF21A Related via 3 shared genes including ALX4, EXT2, PHF21A. Frontonasal dysplasia with alopecia and genital anomaly 1 shared geneALX4 Related via 1 shared gene including ALX4. Seizures, scoliosis, and macrocephaly/microcephaly syndrome 1 shared geneEXT2 Related via 1 shared gene including EXT2. exostoses, multiple, type 2 1 shared geneEXT2 Related via 1 shared gene including EXT2. Intellectual developmental disorder behavioral dysmorphic 1 shared genePHF21A Related via 1 shared gene including PHF21A.