Global Variome shared LOVD

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Phenotype #0000231266 Individual ID 00305416 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial Floating-Harbor syndrome Age/Onset - Diagnosis/Definite FLHS Age/Examination 2y (2 years) Phenotype details see paper; ..., short stature; delayed bone age; triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; no low set ears; no broad thumbs; brachydactyly; clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; no gastrointestinal motility issues; no 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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