Phenotype #0000294775

Individual ID 00402012
Associated disease JBTS5
Phenotype details Chronic kidney disease (HPO 0012622)
horizontal gaze palsy (HPO 0000666)
ptosis right eye (HPO 0007687)
Molar tooth sign (HPO 0002419)
Dandy Walker anomaly (HPO 0001305)
Hyperechoic kidneys with loss of corticomedullary differentiation (HPO 0005565)
Diagnosis/Initial Joubert syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite Joubert syndrome type 5
Age/Examination 02y (2 years)
Age/Diagnosis 02y
Age/Onset 00y00m01d
Phenotype/Onset -
Protein -
Owner name John Sayer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by John Sayer
Date created 2022-02-04 11:57:53 +01:00 (CET)
Date last edited 2022-02-07 09:49:06 +01:00 (CET)

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