Phenotype #0000301042

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408924
Associated disease	-
Phenotype details	Macular rearrangement, With abnormal macular pigmentation with starshape Diffuse salt and pepper aspect, thin vessels . Nystagmus since birth,no ocular pursuit, altered pupillary reflexes
Diagnosis/Initial	leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	2y6m
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

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