Global Variome shared LOVD

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Phenotype #0000000770 Individual ID 00001598 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial - Age/Onset - Diagnosis/Definite - Age/Examination 03y03m (3 years, 3 months) Phenotype details OFC 04y of 48cm/-2SD; Height at 4y of 89.9cm/-3.2SD; Prepubertal height -3.2SD; Bone age of 1y at Chronological age of 3y; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Brachydactyly of fifth toes; Atrial septal defect; Hyperopia; unilateral renal pelviectasis; Moderate delayed intellectual development; Moderate delayed devolopment of expressive language; Xp22.31dup (maternally inherited); delayed bone age Age/Diagnosis - Birth_Details paternal age 32y; 40w; weight 2555 (-1.8) Phenotype/Onset - Height-Weight-OFC weight -2.5 Face/Philtrum short Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-07-09 03:05:11 +02:00 (CEST) Date last edited 2025-02-03 10:18:24 +01:00 (CET)

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