Global Variome shared LOVD

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Phenotype #0000241975 Individual ID 00319871 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details moderate global developmental delay (especially speech; only 10 word vocabulary), constipation, dysmorphic features: wide-set and downslanting eyes, epicanthal folds and bushy eyebrows, low set ears over folded helices, short nose with anteverted nares and a prominent columella, long upper lip and pointy chin, bilateral fifth finger clinodactyly but normal palmar creases, very flat feet Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-09 14:16:53 +01:00 (CET) Date last edited N/A

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