Phenotype #0000300939

Individual ID 00408820
Associated disease OAS
Phenotype details Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), ossicular chain abnormality (HPO:004452), conductive hearing impairment (HPO:0000405), supernumerary ribs (HPO:0005815)
Diagnosis/Initial Microtia
Inheritance Unknown
Diagnosis/Definite OAVS
Age/Examination 06y11m (6 years, 11 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein SALL1
Owner name Miriam Erandi Reyna-Fabián
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Miriam Erandi Reyna-Fabián
Date created 2022-04-28 18:26:41 +02:00 (CEST)
Date last edited 2022-05-03 19:13:46 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.