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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:0000126 | Hydronephrosis |
| HP:0000175 | Cleft palate |
| HP:0000204 | Cleft upper lip |
| HP:0000252 | Microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000405 | Conductive hearing impairment |
| HP:0000496 | Abnormality of eye movement |
| HP:0000501 | Glaucoma |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0000664 | Synophrys |
