Phenotype #0000319132

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00428220
Associated disease	?
Diagnosis/Initial	fetal akinesia
Diagnosis/Definite	CMS6
Phenotype details	birth 33w; reduced fetal movements, polyhydramnios, pulmonary hypoplasia, hydrops fetalis; multiple joint contractures, rocker-bottom feet; no dysmorphism; respiratory insufficiency, pulmonary hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	0m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-12-24 16:09:43 +01:00 (CET)
Date last edited	N/A

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