Global Variome shared LOVD

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

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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.