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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:0000517 | Abnormal lens morphology |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0001156 | Brachydactyly |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0000677 | Oligodontia |
| HP:0004322 | Short stature |
| HP:0000311 | Round face |
| HP:0001510 | Growth delay |
| HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger |
| HP:0001263 | Global developmental delay |
