Phenotype #0000314487

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423280
Associated disease	AAAS
Phenotype details	neonatal onset alacrima; 1y9m-onset alacrima; learning disability, delayed walking, muscle weakness, delayed speech, excessive sweating
Diagnosis/Initial	triple A syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AAAS
Age/Examination	2y9m (2 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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