Global Variome shared LOVD

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Phenotype #0000061345 Individual ID 00081707 Associated disease PRLTS3;DFNB81 Phenotype details sensorineural hearing loss (HP:0000407) psychomotor retardation (HP:0001263) white matter abnormalities, periventricular (MRI) (HP:0002500), (HP:0002518) spastic ataxia (HP:0002497) sensorimotor neuropathy (HP:0007141) stunted growth (HP:0001510) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 01y Phenotype/Onset 1y Protein - Owner name Tom Theunissen Database submission license No license selected Created by Johan den Dunnen Date created 2016-10-19 14:27:33 +02:00 (CEST) Date last edited 2016-10-21 13:20:34 +02:00 (CEST)

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