Phenotype #0000228818

Individual ID	00301720
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	mother (G5P1AB3, 27y), first pregnancy was spontaneous abortion at 2 months. The second pregnancy was terminated at 15wks due to a massively dilated bladder. The third pregnancy was IUFD at 7 months, delivered vaginally. The fourth pregnancy was terminated due to Potter sequence at 15wks. She presented in the current pregnancy at 16 weeks. Fetal ultrasound documented a massively dilated bladder with echogenic kidney and bilateral hydronephrosis with normal liquor. The patient was offered cordocentesis for whole exome sequencing and DNA banking. The procedure was followed by termination of pregnancy.
Inheritance	Familial, autosomal recessive
Age/Examination	<0d
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	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD