Phenotype #0000171365

Individual ID 00226238
Associated disease EE
Phenotype details Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Cerebellar atrophy (HP:0001272); Sensorineural hearing impairment (HP:0000407); Failure to thrive (HP:0001508); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite EE
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset 00y02m?
Phenotype/Onset -
Protein ACO2
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-05 10:12:06 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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