Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000000782 Individual ID 00001612 Associated disease FLHS Inheritance Unknown Diagnosis/Initial - Age/Onset - Diagnosis/Definite - Age/Examination 07y05m (7 years, 5 months) Phenotype details OFC 19y of 52cm/-2.5SD; Height at 19y of 145.5cm/-4.1SD; Bone age of 2y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; 11 rib pairs; Ivory epiphyses in distal phalanges; posterior urethral valves; Umbilical hernia; Significant intellectual disability; Can speak some words; Attending special school; delayed bone age Age/Diagnosis - Birth_Details paternal age 41y; 39w; weight 2550 (-1.8) Phenotype/Onset - Height-Weight-OFC weight -5.3 Face/Philtrum normal Protein - Owner name Dennis E. Bulman Database submission license No license selected Created by Dennis E. Bulman Date created 2013-07-11 04:05:21 +02:00 (CEST) Date last edited 2025-02-03 10:18:24 +01:00 (CET)

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