Phenotype #0000300953

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408796
Associated disease	HDKR
Diagnosis/Initial	Hardikar syndrome
Diagnosis/Definite	HDKR
Phenotype details	Cleft palate, Renal cyst, Elevated hepatic transaminase, External ear malformation, Failure to thrive, Vaginal atresia, Urethrovaginal fistula, Hydronephrosis, Umbilical hernia
Inheritance	Familial, X-linked
Age/Examination	01y (1 year)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Andreas Laner
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-28 20:55:12 +02:00 (CEST)
Date last edited	2022-04-28 20:55:45 +02:00 (CEST)

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