Phenotype #0000314484

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423277
Associated disease	AAAS
Phenotype details	7y2m-adrenal insufficiency; neonatal onset alacrima; muscle weakness, delayed walking, delayed speech; multiple dental caries, palmoplantar hyperkeratosis, atrophy of the thenar/hypothenar muscles
Diagnosis/Initial	triple A syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AAAS
Age/Examination	9y2m (9 years, 2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-14 16:58:58 +01:00 (CET)
Date last edited	N/A

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