| Term Name: | Meier-Gorlin syndrome 9 |
|---|---|
| Synonyms: | |
| Definition: | A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21. |
| Ontology: | Human Disease [DOID:0051069] ( DOID:0051069 ) |