Phenotype #0000053537

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00017804
Associated disease	JBTS
Phenotype details	Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	06y (6 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 22:10:05 +02:00 (CEST)
Date last edited	N/A

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