Phenotype #0000232739

Global Variome shared LOVD

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

Individual ID	00306916
Associated disease	GM1G1
Phenotype details	HP:0001263 Global developmental delay HP:0002344 Progressive neurologic deterioration HP:0001249 Intellectual disability HP:0002808 Kyphosis HP:0002650 Scoliosis HP:0000505 Visual impairment
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	01y06m
Age/Onset	01y06m
Phenotype/Onset	-
Protein	-
Owner name	Sarah Snanoudj
Database submission license
Created by	Sarah Snanoudj
Date created	2020-07-23 13:55:11 +02:00 (CEST)
Date last edited	2020-07-27 14:37:24 +02:00 (CEST)

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