Global Variome shared LOVD

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Phenotype #0000231268 Individual ID 00305418 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial Floating-Harbor syndrome Age/Onset - Diagnosis/Definite FLHS Age/Examination 5y (5 years) Phenotype details see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; gastrointestinal motility issues; behavioral issues Age/Diagnosis - Birth_Details - Phenotype/Onset - Height-Weight-OFC - Face/Philtrum - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-25 13:07:33 +02:00 (CEST) Date last edited N/A

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