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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