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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000365 | Hearing impairment |
| HP:0002650 | Scoliosis |
| HP:0008897 | Postnatal growth retardation |
| HP:0002553 | Highly arched eyebrow |
| HP:0000537 | Epicanthus inversus |
| HP:0003307 | Hyperlordosis |
| HP:0000377 | Abnormal pinna morphology |
| HP:0002825 | Caudal appendage |
| HP:0001363 | Craniosynostosis |
| HP:0000007 | Autosomal recessive inheritance |
