Phenotype #0000309212

Global Variome shared LOVD

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

Individual ID	00417844
Associated disease	SMA1
Phenotype details	Generalized hypotonia, Respiratory insufficiency, Increased variability in muscle fiber diameter, Abnormal muscle fiber protein expression
Diagnosis/Initial	01y05mo
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2022-09-26 13:22:43 +02:00 (CEST)
Date last edited	2022-09-26 13:37:10 +02:00 (CEST)

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