Global Variome shared LOVD

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Phenotype #0000231254 Individual ID 00305404 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial Floating-Harbor syndrome Age/Onset - Diagnosis/Definite FLHS Age/Examination 7y6m (7 years, 6 months) Phenotype details birth weight 2960 kg, length 48 cm, OFC 37 cm; 7y6m -weight 20 kg, height 112 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly, brachydactyly, short first MC; no digestive abnormalities; delayed bone age; hypernasal voice; mild developmental delay; inguinal hernia; no puberty Age/Diagnosis - Birth_Details - Phenotype/Onset - Height-Weight-OFC - Face/Philtrum - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2020-06-25 10:50:08 +02:00 (CEST) Date last edited N/A

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