Human genes for Potocki-Shaffer syndrome
Potocki-Shaffer syndrome [DOID:0111687]
A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
Synonyms: Potocki-Shaffer syndrome, DOID:0111687, PotockiShaffer syndrome, Potocki-Shaffer disease, Potocki-Shaffer disorder ...