Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000073522 Individual ID 00095125 Associated disease SPG Phenotype details thoracic kyphosis (HP:0002942), cerebellar signs (HP:0001317), hyperreflexia (HP:0001347), dysarthria (-HP:0001260), borderline personality disorder (HP:0012076), Skeletal muscle atrophy (HP:0003202), Limb fasciculations (-HP:0007289), Impaired vibration sensation at ankles (-HP:0006938), urinary bladder sphincter dysfunction (-HP:0002839), babinski sign (-HP:0003487), inability to walk (HP:0002540) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 13y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-09-24 13:24:29 +02:00 (CEST) Date last edited 2016-09-26 09:46:26 +02:00 (CEST)

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