Phenotype #0000307061

Global Variome shared LOVD

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

	Curator: Global Variome, with Curator vacancy

Individual ID	00415263
Associated disease	-
Phenotype details	OMIM: 213300; global developmental delay, hypotonia, and dysmorphic child
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome type 1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-10 20:39:58 +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.