Phenotype #0000234848

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00309528
Associated disease	JBTS
Phenotype details	see paper; ..., developmental disability; apnea, tachypnea; abnormal eye movements; no retinal dystrophy; no polydactyly; no coloboma; ptosis; seizures; G-tube
Diagnosis/Initial	Joubert syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JBTS30
Age/Examination	8y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-28 16:43:54 +02:00 (CEST)
Date last edited	N/A

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