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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