Phenotype #0000171367

Individual ID 00226240
Associated disease EE
Phenotype details Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Failure to thrive (HP:0001508); Seizures (HP:0001250); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Cerebellar atrophy (HP:0001272)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite EE
Age/Examination 02y10m (2 years, 10 months)
Age/Diagnosis -
Age/Onset 00y02m?
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-05 10:24:04 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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