Phenotype #0000053529

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00017792
Associated disease	JBTS
Phenotype details	see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,...
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-06-19 21:16:55 +02:00 (CEST)
Date last edited	2016-06-19 21:17:57 +02:00 (CEST)

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