Phenotype #0000278427

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00384637
Associated disease	?
Diagnosis/Initial	Enhanced S-cone syndrome and early onset oculopharyngeal muscular dystrophy
Diagnosis/Definite	Mixed
Phenotype details	enhanced S-cone syndrome (AR) and Early onset oculopharyngeal muscular dystrophy (AD)
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2021-10-04 12:47:36 +02:00 (CEST)
Date last edited	N/A

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