Phenotype #0000201658

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00263300
Associated disease	-
Phenotype details	severe retinitis pigmentosa (HP:0000510), goiter (HP:0000853), primary ovarian insufficiency (HP:0008209), mild intellectual disability (HP:0001256)
Diagnosis/Initial	retinitis pigmentosa
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	17y
Phenotype/Onset	-
Protein	-
Owner name	Jasmine Chen
Database submission license	No license selected
Created by	Jasmine Chen
Date created	2019-08-24 16:45:53 +02:00 (CEST)
Date last edited	2020-08-25 10:48:31 +02:00 (CEST)

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