Phenotype #0000171372

Individual ID 00225634
Associated disease -
Phenotype details Ataxia (HP:0001251); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Abnormal saccadic eye movements (HP:0000570); Abnormal facial shape/dysmorphic facial features (HP:0001999); Muscular hypotonia (HP:0001252); Myoclonus (HP:0001336)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset 00y06m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-05 11:33:52 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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