OBO ID: DOID:0050814 |
Term Name: | temtamy preaxial brachydactyly syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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. (3) | ||
References: |
|
||
Ontology: | Human Disease ( DOID:0050814 ) |
OTHER temtamy preaxial brachydactyly syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.