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3MC syndrome 1
Summary
- Definition
- A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
- Super Class
- 3MC syndrome
External Links
- Disease Ontology
- DOID:0060575
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P48740 | Mannan-binding lectin serine protease 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000202 | Orofacial cleft |
| HP:0000316 | Hypertelorism |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000537 | Epicanthus inversus |
| HP:0000581 | Blepharophimosis |
