Phenotype #0000249793

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00301741
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	skeletal dysplasia
Phenotype details	Neonatal hypotonia, Cutis laxa, Global developmental delay, Kyphosis, Joint laxity
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	2021-02-11 16:00:23 +01:00 (CET)
Date last edited	N/A

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