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 Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
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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