Phenotype #0000346365

Global Variome shared LOVD

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

Individual ID	00457915
Associated disease	NDD
Diagnosis/Initial	global developmental delay
Diagnosis/Definite	SPDRS
Phenotype details	see paper; ..., global developmental delay; prenatal 18w-microcephaly; normal birth parameters, subsequent regression; failed to reach developmental milestones; 2m-irritability, poor feeding, failure to thrive
Inheritance	Familial, autosomal recessive
Age/Examination	03y06m (3 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-21 10:40:59 +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.