Phenotype #0000141999

Individual ID 00179519
Associated disease JBTS
Phenotype details developmental delay, ataxia
ptosis, rod cone dystrophy, night blindness, bilateral visual pathway involvement; left multicystic dysplastic kidney, right grade I hydronephrosis
Single palmar crease, pectus carinatum, normal Auditory Brainstem Response
Diagnosis/Initial Joubert Syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite JBTS35
Age/Examination 05y (5 years)
Age/Diagnosis 05y
Age/Onset 00y03m
Phenotype/Onset -
Protein -
Owner name John Sayer
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by John Sayer
Date created 2018-08-23 22:31:59 +02:00 (CEST)
Date last edited 2022-02-25 19:47:35 +01:00 (CET)

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