Global Variome shared LOVD

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Phenotype #0000300894 Individual ID 00408779 Associated disease JBTS Phenotype details strabismus, roving eye movements, colobomas of retina and choroidea, respiratory anomalies: episodic hyperpnea/apnea, kidney anomalies: renal failure, extracorporeal haemodialysis, liver anomalies: impaired function; molar tooth sign - data not available; other radiological anomalies: vermis hypoplasia, hypoplasia of cerebellar hemispheres; other anomalies: scoliosis, Burkitt's lymphoma 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 Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-27 16:30:10 +02:00 (CEST) Date last edited N/A

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