Global Variome shared LOVD

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Phenotype #0000221947 Individual ID 00288210 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details decreased body weight, short stature, failure to thrive, postnatal growth retardation, intrauterine growth retardation, growth delay, widely spaced teeth, thick vermilion border, full cheeks, U-shaped upper lip vermilion, narrow forehead, depressed nasal bridge, deeply set eye, short philtrum, tachypnea, apnea, broad hallux, clinodactyly, broad thumb, meconium ileus, shawl scrotum, global developmental delay, autistic behavior Inheritance Isolated (sporadic) Age/Examination 7y (7 years) 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 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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