Phenotype #0000073493

Individual ID 00095101
Associated disease PVNH4
Phenotype details joint hypermobility (7/9) (HP:0001382), seizures (HP:0001250), pulmonary root dilatation (HP:0004927), normal aorta (-HP:0001679), normal valves (-HP:0001654), thin skin with visible vessels (HP:0000963), no abnormalities craniofacial (-HP:0000271, -HP:0000234)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset >00y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-21 16:49:26 +02:00 (CEST)
Date last edited 2016-09-26 17:23:28 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.