Phenotype #0000170753

Individual ID 00225650
Associated disease -
Phenotype details Abnormality of eye movement (HP:0000496); Cerebellar atrophy (HP:0001272); Bilateral Optic disc pallor (HP:0000543); Muscular hypotonia of the trunk (HP:0008936); Global developmental delay (HP:0001263); Nystagmus (HP:0000639); Poor eye contact (HP:0000817); Abnormal saccadic eye movements (HP:0000570)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset 01y08m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-02-22 11:24:09 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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