Phenotype #0000307799

Individual ID 00416033
Associated disease ?
Diagnosis/Initial possible Joubert syndrome
Diagnosis/Definite -
Phenotype details no infantile hypotonia; normal breathing; 6m-sit; 18m-walk; speech delay; persistent congenital ocular-motor apraxia; no ataxia; macrocephaly; no intellectual disability; MRI brain superior cerebellar peduncles; superior cerebellar dysplasia; vermis hypoplasia; Vermian split; fastigium displaced
Inheritance Familial
Age/Examination 10y-15y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2022-08-22 15:57:28 +02:00 (CEST)
Date last edited N/A

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