Phenotype #0000351240

Global Variome shared LOVD

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

Individual ID	00465798
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	JDSCD
Phenotype details	see paper; ..., bone dysplasia, dislocated joints, craniofacial dysmorphism, disproportionate short stature; no heart phenotype
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-06-05 16:45:08 +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.