Global Variome shared LOVD

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

Phenotype #0000073503 Individual ID 00095107 Associated disease PVNH4 Phenotype details no abnormality of habitus (HP:0004323), joint hypermobility (HP:0001382), seizures (HP:0001250), periventricular heterotopia (HP:0002282), mitral valve prolapse (HP:0001634), thin skin (HP:0000963), doughy skin (HP:0001027), no skin hyperextensibility (-HP:0000974), no poor wound healing (-HP:0001058), non dysmorphic face (-HP:0001999), high arched palate (HP:0002705), supraumbilical hernia (HP:0001537); brain MRI periventricular heterotropia (PH); ECG prolapse mitral valve; 8y supra-umbilical hernia repaired; 1m small atrial septal defect; normal wound healing Diagnosis/Initial - Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset 00y01m 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 2016-09-28 23:42:27 +02:00 (CEST) Date last edited 2017-01-06 12:43:41 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.