Phenotype #0000305710

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00413745
Associated disease	-
Phenotype details	Retinitis pigmentosa; decreased night time vision. Hyperopic astigmatism; Mild developmental delay, resolved. Attention deficit disorder.
Diagnosis/Initial	syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD)
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-07-22 03:34:11 +02:00 (CEST)
Date last edited	N/A

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