Phenotype #0000023264

Individual ID 00027192
Associated disease JBTS1
Inheritance Familial, autosomal recessive
Phenotype details see paper; mild Joubert syndrome, cerebellar dysplasia (superior only), no cerebellar cysts, global vermis hypoplasia (inferior only), ...
Diagnosis/Initial -
Age/Examination >00y05m (later than 5 months)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-12-24 17:54:44 +01:00 (CET)
Date last edited N/A

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