Phenotype #0000347863

Global Variome shared LOVD

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

Individual ID	00460138
Associated disease	DWFP
Phenotype details	see paper; ..., mild developmental delay (VIQ78, PIQ53, FSIQ60); sub-arachnoid bleeding
Diagnosis/Initial	primordial dwarfism
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MOPD2
Age/Examination	8y4m (8 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Height-Weight-OFC	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-18 14:24:14 +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.