Phenotype #0000326298

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436114
Associated disease	SEMD
Phenotype details	see paper; ..., 3m15d-died; fetal ultrasound short limbs, birth at term, weight 2180g (-3.2 SD), length 40cm (-5 SD); spine anomaly; metaphyseal anomaly; epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly
Diagnosis/Initial	spondyloepimetaphyseal dysplasia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	3m15d
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-08-10 22:14:44 +02:00 (CEST)
Date last edited	N/A

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