Global Variome shared LOVD

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Phenotype #0000000751 Individual ID 00001579 Associated disease FLHS Inheritance Unknown Diagnosis/Initial - Age/Onset - Diagnosis/Definite - Age/Examination 01y03m (1 year, 3 months) Phenotype details head circumference at 12y of 53cm/-1SD; Height at 12y of 134.8cm/-2.0SD; Perputertal height -2.0SD; Bone age of 8y at chronological age of 11y; Triangular face; Distinctive nose; Low-hanging columella; Thin uppper vermilion border; Wide mouth; Broad fingertips; Clinodactyly (radial deviation fifth distal phalanx); Dislocated radial head; 11 rib pairs; Maxillary retrusion; Underbite; Mild aortic coarctation; Borderline normal intellectual development; Moderate delayed development of expressive language; Normal microarray findings (180k Agilent); delayed bone age; brachydactyly (HP:0000153) Age/Diagnosis - Birth_Details 38w; paternal age of 29y; weight 2400g (-1.7) Phenotype/Onset - Height-Weight-OFC - Face/Philtrum short Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-07-07 16:32:56 +02:00 (CEST) Date last edited 2025-02-03 10:28:40 +01:00 (CET)

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