Phenotype #0000233394

Global Variome shared LOVD

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

Individual ID	00307971
Associated disease	ID
Diagnosis/Initial	intellectual diability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., Failure to thrive, Intellectual disability, Dysarthria, Abnormality of the teeth, Hyperreflexia, Metatarsus adductus, Gait Ataxia
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-23 13:31:08 +02:00 (CEST)
Date last edited	N/A

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