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temtamy preaxial brachydactyly syndrome
Summary
- Synonym
-
- PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
- Definition
- A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050814
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86X52 | Chondroitin sulfate synthase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0009466 | Radial deviation of finger |
| HP:0000592 | Blue sclerae |
| HP:0003196 | Short nose |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0005037 | Proximal radio-ulnar synostosis |
| HP:0000691 | Microdontia |
| HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger |
| HP:0001566 | Widely-spaced maxillary central incisors |
| HP:0000164 | Abnormality of the dentition |
