Phenotype #0000054376

Individual ID	00074620
Associated disease	ALS
Phenotype details	difficulty in walking (HP:0002355), weakness of lower limbs (HP:0007340), fasciculations of lower limbs (HP:0007289), difficulty in rising from lying to sitting position (HP:?), slight slurring of speech (HP:0002465), breathlessness while speaking (HP:?), atrophy and weakness of distal muscles of lower limbs(HP:0002460), weakness of proximal muscles (HP:0003701), mild weakness of trunk muscles (HP:?), jaw jerk (HP:?), palmomental reflex (HP:0002476), exaggerated tendon reflexes (HP:0006801), standing with support (HP:0003698), active denervation in bulbar area and muscles of both lower limbs (HP:?),
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Jamie Zeegers
Database submission license	No license selected
Created by	Jamie Zeegers
Date created	2016-07-11 12:47:12 +02:00 (CEST)
Date last edited	2018-01-20 15:47:06 +01:00 (CET)

Global Variome shared LOVD