Phenotype #0000337608

Global Variome shared LOVD

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

Individual ID	00448420
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	LDMLS1
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., early-onset intellectual developmental disorder, cardiac arrhythmia syndrome; 6m-convulsions, paroxysmal cyanosis (1d); neurodevelopmental delay; frequent seizures, ECG severe cardiac arrhythmia
Age/Examination	00y06m (6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-03-08 18:43:49 +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.