Phenotype #0000293278

Individual ID 00400239
Associated disease USH
Diagnosis/Initial -
Diagnosis/Definite Usher syndrome type 2A
Phenotype details best-corrected visual acuity right/left eye (OD/OS): 0.3/0.3, cataract: yes (37y), macular degeneration: severe, optic disc: waxy, artery attenuation, pigment deposits, electroretinography: diminished<5deg/<5deg, hearing undetectable (age): yes (borny)
Inheritance Familial, autosomal recessive
Age/Examination 40y (40 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset hearing undetectable (borny)
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-01-26 14:10:36 +01:00 (CET)
Date last edited N/A

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