Phenotype #0000288762

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00395564
Associated disease	-
Phenotype details	posterior polar cataract, rod-cone dystrophy, strabismus, congenital sensorineural hearing impairment, delayed speech and language development, global developmental delay, mild intellectual disability
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa, hearing impairment, intellectual disability
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-12-08 14:12:08 +01:00 (CET)
Date last edited	N/A

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