Phenotype #0000325034

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00434790
Associated disease	NTD
Phenotype details	see paper; ..., mild developmental delay; meningomyelocele; scoliosis; vertebral segmentation defect; narrow chest; talipes equinovarus; umbilical hernia; imperforated anus ; rectovaginal fistula; single kidney
Diagnosis/Initial	neural tube defect
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	00y10m (10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-04-07 13:31:47 +02:00 (CEST)
Date last edited	N/A

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