Phenotype #0000249508

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00331316
Associated disease	skeletal dysplasia
Diagnosis/Initial	skeletal dysplasia
Diagnosis/Definite	Disorganized development of skeletal components group
Phenotype details	Ectopic ossification, Triangular face, Ptosis, Microtia, Overfolded helix, Foot polydactyly Yes
Inheritance	Familial, autosomal dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-11 15:29:38 +01:00 (CET)
Date last edited	N/A

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