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3MC syndrome 3
Summary
- Definition
- A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
- Super Class
- 3MC syndrome
External Links
- Disease Ontology
- DOID:0060577
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48740 | Mannan-binding lectin serine protease 1 | |
| Q9Y6Z7 | Collectin-10 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000054 | Micropenis |
| HP:0002006 | Tessier cleft |
| HP:0000028 | Cryptorchidism |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0000175 | Cleft palate |
| HP:0100258 | Preaxial polydactyly |
| HP:0001510 | Growth delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000048 | Bifid scrotum |
| HP:0004322 | Short stature |
