Phenotype #0000318800

Individual ID 00427828
Associated disease RP14
Phenotype details Myopia; Two uncles (maternal side) retinitis pigmentosa, one with variant TULP1 NM_003322.6 c.1082G>A p.(Arg361Gln) in homozygous state
Diagnosis/Initial -
Inheritance Familial
Diagnosis/Definite -
Age/Examination 32y (32 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2022-12-15 12:30:09 +01:00 (CET)
Date last edited 2022-12-16 11:50:00 +01:00 (CET)

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