Phenotype #0000234845

Individual ID 00309525
Associated disease JBTS
Phenotype details see paper; ..., developmental disability; no apnea, no tachypnea; abnormal eye movements; no retinal dystrophy; no kidney abnormality; no liver abnormality; no polydactyly; no coloboma; no ptosis; seizures; hysterectomy 2016 (heavy bleeding); worsening visual acuity
Diagnosis/Initial Joubert syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite JBTS30
Age/Examination 33y (33 years)
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 2020-08-28 16:43:54 +02:00 (CEST)
Date last edited N/A

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