Phenotype #0000311237

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00419971
Associated disease	IMAGE
Phenotype details	intrauterine growth restriction; skeletal involvement; adrenal insufficiency; genitourinary abnormalities; no immunodeficiency; developmental dysplasia hip; café au lait patch
Diagnosis/Initial	IMAGe syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	IMAGE1
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-10-27 21:13:16 +02:00 (CEST)
Date last edited	N/A

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