Phenotype #0000314424

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00423220
Associated disease	DMC
Phenotype details	see paperp; ..., skeletal dysplasia, mental retardation, progressive spondyloepimetaphyseal dysplasia, disproportionate short stature, generalized platyspondyly, lacy iliac crest
Diagnosis/Initial	Dyggve-Melchior-Clausen syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	DMC
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-11-11 16:21:04 +01:00 (CET)
Date last edited	N/A

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