Phenotype #0000236401

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00311146
Associated disease	CAKUT
Phenotype details	renal ultrasound normal; ECHO heart normal; dysmorphic facial features, short 5th fingers & thumbs, broad big toes, 5th finger clinodactyly, mild short stature (9th percentile); microcephaly, developmental delay, hypotonia, high hyperopia
Diagnosis/Initial	CAKUT
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-19 17:29:02 +02:00 (CEST)
Date last edited	N/A

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