Phenotype #0000054378

Individual ID	00074622
Associated disease	ALS
Phenotype details	weakness of the left hand (HP:?), widespread fasciculations (HP:0002380), slurring of speech (HP:0002465), no swallowing difficulties (-HP:0002015), no breathlessness (-HP:?), no impairment of memory (-HP:0002354), no emotional lability (-HP:0000712), no difficulty walking (-HP:0002355), no difficulty climbing stairs (-HP:0003551), atrophy (HP:?), weakness of interossei, thenar and hypothenar muscles of the left hand (HP:?), moderate weakness of trunk muscles (HP:?), power in the lower limbs was normal (HP:?), exaggerated deep tendon reflexes (HP:0006801), plantars were extensor (HP:?), acute and chronic denervation (HP:?), reinnervation (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 13:02:48 +02:00 (CEST)
Date last edited	2018-01-20 15:50:15 +01:00 (CET)

Global Variome shared LOVD