Phenotype #0000044437

Global Variome shared LOVD

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

Individual ID	00057786
Associated disease	SMA
Phenotype details	no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	30y
Age/Onset	03y
Phenotype/Onset	-
Protein	-
Owner name	Mirella Filocamo
Database submission license
Created by	Johan den Dunnen
Date created	2016-01-21 15:08:09 +01:00 (CET)
Date last edited	2016-01-24 09:29:18 +01:00 (CET)

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