Global Variome shared LOVD

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Phenotype #0000233341 Individual ID 00307918 Associated disease ID Diagnosis/Initial intellectual diability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., abnormal facial shape; hypospadias; chordee; global developmental delay; depressed nasal bridge; frontal bossing; abnormality of the frontal hairline; microtia; anteverted nares; café au lait spot Age/Examination 1y (1 year) Age/Diagnosis - 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 2020-08-23 12:07:39 +02:00 (CEST) Date last edited N/A

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