Phenotype #0000355099

Individual ID 00469954
Associated disease ?
Diagnosis/Initial Joubert syndrome
Diagnosis/Definite -
Phenotype details infantile hypotonia; abnormal breathing; 24m-sit; 6y-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; moderate intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no Vermian split; no displaced fastigium
Inheritance Familial
Age/Examination 05y-10y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Valentina Serpieri
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-22 15:57:28 +02:00 (CEST)
Date last edited N/A

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