Phenotype #0000093254

Global Variome shared LOVD

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

Individual ID	00117866
Associated disease	CDG1P
Phenotype details	unremarkable prenatal and neonatal period, fat pads, hypotonia, deafness, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Christian Thiel
Database submission license	No license selected
Created by	Christian Thiel
Date created	2011-11-09 12:09:27 +01:00 (CET)
Date last edited	2011-11-11 14:55:53 +01:00 (CET)

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