Phenotype #0000317225

Individual ID 00426061
Associated disease ?
Diagnosis/Initial arterial tortuosity, fractures
Diagnosis/Definite -
Phenotype details see paper; ..., no short palpebral fissures; no downslanted palpebral fissures; thin upper lip; no flat philtrum; dolichocephaly; aortic tortuosity; tortuosity of other arteries; aortic root dilatation; coarctation of the aorta; arterial stenosis; no abnormal implantation of aortic branches; no arterial dissection; joint hyperlaxity; fractures; birth 1 fracture; muscle hypotonia; no cutis laxa; petechiae at birth; cephalohematoma; respiratory distress; hydronephrosis; no seizures
Inheritance Familial, autosomal recessive
Age/Examination 00y00m14d (14 days)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2022-11-27 11:08:09 +01:00 (CET)
Date last edited 2022-11-27 11:09:10 +01:00 (CET)

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.