Phenotype #0000300889

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408774
Associated disease	JBTS
Phenotype details	mildly abnormal eye movements, horizontal/rotatory nystagmus, exoforia right eye, respiratory anomalies: episodic hyperpnea, central apneas (monitoring), kidney anomalies: none, liver anomalies: none; molar tooth si
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-27 16:30:10 +02:00 (CEST)
Date last edited	N/A

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