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Larsen-like syndrome B3GAT3 type
Summary
- Synonym
-
- Larsen-like syndrome, B3GAT3 type
- multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
- Definition
- A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080575
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O94766 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000369 | Low-set ears |
| HP:0000238 | Hydrocephalus |
| HP:0000592 | Blue sclerae |
| HP:0000973 | Cutis laxa |
| HP:0000470 | Short neck |
| HP:0000274 | Small face |
| HP:0000691 | Microdontia |
| HP:0000160 | Narrow mouth |
| HP:0000565 | Esotropia |
| HP:0000878 | 11 pairs of ribs |
