Phenotype #0000355103

Individual ID 00469958
Associated disease ?
Diagnosis/Initial possible Joubert syndrome, macrocerebellum
Diagnosis/Definite -
Phenotype details infantile hypotonia; normal breathing; 8m-sit; 22m-walk; speech delay; persistent congenital ocular-motor apraxia; mild ataxia; macrocephaly; mild intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; no displaced fastigium
Inheritance Isolated (sporadic)
Age/Examination 00y-05y
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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