Phenotype #0000310040

Individual ID 00418745
Associated disease JBTS
Phenotype details molar tooth sign: not documented; occipital encephalocele: not documented; retinal dystrophy: not documented; coloboma: not documented; kidney disease: not documented; liver fibrosis: not documented; polydactyly: not documented
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 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-05 11:34:13 +02:00 (CEST)
Date last edited N/A

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