Phenotype #0000061346

Individual ID 00081706
Associated disease PRLTS3;DFNB81
Phenotype details Sensorineural hearing loss (HP:0000407)
epilepsy, seizures (HP:0001250)
White matter affected (MRI), periventricular, (HP:0002500),(HP:0002518)
spastic ataxia (HP:0002497)
psychomotor retardation (HP:0001263)
autism (HP:0000717)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination <01y (before 1 year)
Age/Diagnosis 01y
Age/Onset 01y
Phenotype/Onset -
Protein -
Owner name Tom Theunissen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-10-19 14:40:45 +02:00 (CEST)
Date last edited 2016-10-21 13:16:22 +02:00 (CEST)

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