Phenotype #0000343448

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00454838
Associated disease	AAAS
Phenotype details	see paper; ..., mild intellectual disability; motor impairment; EMG polyneuropathy; alacrima; no dysphagia/achalasia; facial weakness; tongue fasciculations; growth delay; no epilepsy
Diagnosis/Initial	triple A syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	AAAS2
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-28 14:45:24 +02:00 (CEST)
Date last edited	N/A

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