Burn-McKeown syndrome

Summary
Synonym
  • Choanal atresia - deafness - cardiac defects - dysmorphism syndrome
Definition
A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, hearing loss, heart abnormalities, and short stature.
Super Class
syndrome
Disease Ontology
DOID:0080695
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10907 TXNL4A thioredoxin like 4A

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024