Global Variome shared LOVD

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Phenotype #0000236401 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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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