Phenotype #0000326757

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436611
Associated disease	ALMS
Phenotype details	Photophobia HP:0000613, Reduced visual acuity HP:0007663, Color vision defect HP: 0000551, Acanthosis nigricans HP:0000956, Abnormality of retinal pigmentation HP:0007703
Diagnosis/Initial	Cone rod dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	# 203800
Age/Examination	06y (6 years)
Age/Diagnosis	13y
Age/Onset	06y
Phenotype/Onset	-
Protein	-
Owner name	Rocio Villafuerte-de la Cruz
Database submission license
Created by	Rocio Villafuerte-de la Cruz
Date created	2023-09-23 06:40:53 +02:00 (CEST)
Date last edited	2023-10-01 21:47:47 +02:00 (CEST)

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