Phenotype #0000335925

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00446723
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	GDACCF
Phenotype details	see paper; ..., birthfetus early third trimester; severe hydrops hydrothorax, ascites, subcutaneous edema neck; no renal anomalies; no cardiac defect; no sketelal anomalies; no limb malformation; no corpus callosum agenesis/hypoplasia; normal genitals
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-01-22 13:14:03 +01:00 (CET)
Date last edited	N/A

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