Phenotype #0000281745

Individual ID 00388152
Associated disease -
Phenotype details Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: UCSM/UCSM, fundus: Temporal MP bundle defect, Granular macular dystrophy, ERG: Extinguished, additional features: Transposition of the great arteries, Increased bilirubin, Increased kidney echo, Molar tooth sign
Diagnosis/Initial Joubert syndrome
Inheritance Unknown
Diagnosis/Definite Joubert syndrome
Age/Examination 5m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-11-02 11:59:44 +01:00 (CET)
Date last edited N/A

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