Phenotype #0000328643

Global Variome shared LOVD

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

Individual ID	00438745
Associated disease	DEE
Diagnosis/Initial	global developmental delay
Diagnosis/Definite	MRD56
Phenotype details	see paper; ..., global developmental delay, suspected intellectual disability; no seizures; MRI brain normal; mild hypotonia, oral and motor apraxia, suspected ADHD
Inheritance	Isolated (sporadic)
Age/Examination	04y07m (4 years, 7 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-23 14:05:45 +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.