Global Variome shared LOVD

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Phenotype #0000059355 Individual ID 00079631 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination - Height-Weight-OFC - Phenotype details short stature； microcephaly； Hypertelorism； flat nose; Thin lips; short neck; full cheeks; Sacral dimple; Developmental delay; Intellectual disability; Feeding difficulties; megaloureter; abnormal midface; cone-shaped epiphysis of the phalanges of the hand; HP:0007441; Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Guorui Hu Database submission license No license selected Created by Guorui Hu Date created 2016-08-15 18:33:37 +02:00 (CEST) Date last edited 2016-12-02 13:23:44 +01:00 (CET)

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