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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:0002002 | Deep philtrum |
| HP:0000664 | Synophrys |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0001159 | Syndactyly |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001357 | Plagiocephaly |
| HP:0009702 | Carpal synostosis |
| HP:0002553 | Highly arched eyebrow |
| HP:0000316 | Hypertelorism |
| HP:0001234 | Hitchhiker thumb |
