Global Variome shared LOVD

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Phenotype #0000073499 Individual ID 00095106 Associated disease PVNH4 Phenotype details Congenital hip dysplasia (HP:0001385), JH (8/9) (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia (HP:0007165), Aortic root dilatation (HP:0002616), pulmonary artery dilatation (HP:0004927), Mild skin thinning (HP:0000963), ‘criss crossing’ of palmar skin (HP:0011356), Non-dysmorphic (-HP:0001999) , Umbilical hernia (HP:0001537) Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset ? Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-09-25 14:58:23 +02:00 (CEST) Date last edited 2016-09-26 15:36:06 +02:00 (CEST)

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