Global Variome shared LOVD

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Phenotype #0000300893 Individual ID 00408778 Associated disease JBTS Phenotype details strabismus, ptosis left eye, horizontal nystagmus, vision 0.2, retinal dystrophy, respiratory anomalies: episodic hyperpnea/apnea, kidney anomalies: none, liver anomalies: enlarged(?); molar tooth sign; other radiological anomalies: cortical dysplasia, abnormal gyration of left parietal lobe; other anomalies: scrotal hypospadia, bilat. retentio testis, bifid scrotum 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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