Phenotype #0000346363

Global Variome shared LOVD

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

Individual ID	00457913
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	SPDRS
Phenotype details	see paper; ..., brith neonatal jaundice; 3m-high fever, generalized rigidity, clenched fists, staring eyes, cyanosis lips (1 min)
Inheritance	Familial, autosomal recessive
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-21 10:11:33 +01:00 (CET)
Date last edited	N/A

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