Phenotype #0000314493

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423286
Associated disease	AAAS
Phenotype details	3y-adrenal insufficiency; neonatal onset alacrima; 11y3m-onset achalasia; hyperreflexia, muscle weakness, nasal speech, optic atrophy; multiple dental caries
Diagnosis/Initial	triple A syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AAAS
Age/Examination	12y9m (12 years, 9 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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