Phenotype #0000073495

Individual ID 00095102
Associated disease PVNH4
Phenotype details Generalised joint laxity (HP:0002761), no seizures (-HP:0001250), Dilatation Aorta ascendens (HP:0005111), Thin skin (HP:0000963), Abnormality of the aortic valve (HP:0001646), Patent ductus arteriosus (ligated at 0y3m)(HP:0001643), Cognitive impairment (HP:0100543)
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-23 10:03:21 +02:00 (CEST)
Date last edited 2016-09-26 13:53:50 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.