Phenotype #0000351239

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00465797
Associated disease	JDSCD
Phenotype details	see paper; ..., skeletal dysplasia, global developmental delay, multiple congenital anomalies; bilateral hip/elbow dislocations; right inguinal hernia (surgically corrected); failure to thrive; short stature
Diagnosis/Initial	skeletal dysplasia, global developmental delay, congenital anomalies
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	JDSCD
Age/Examination	05y (5 years)
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 16:36:55 +02:00 (CEST)
Date last edited	N/A