Phenotype #0000060853

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00081276
Associated disease	SPG61
Phenotype details	scissors gait (HP:0012407), difficulty walking (HP:0002355), lower limb spasticity (HP:0002061), hyperactive patellar reflex (HP:0007083), absent Achilles reflex (HP:0003438), extensor pantar reflex (HP:0003487), mixed polyneuropathy predominantly affecting lower limbs (HP:0007237), acromutilation
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	12y (12 years)
Age/Diagnosis	01y
Age/Onset	01y02m
Phenotype/Onset	scissors gait, difficulty walking
Protein	-
Owner name	Ramona Jacobs
Database submission license	No license selected
Created by	Ramona Jacobs
Date created	2016-09-28 17:12:45 +02:00 (CEST)
Date last edited	2016-10-09 15:44:13 +02:00 (CEST)