Phenotype #0000187440

Individual ID 00248449
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial distal arthrogryposis
Age/Examination -
Diagnosis/Definite DA-5D
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Phenotype details see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; born at term, breech presentation
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 2019-07-23 23:23:22 +02:00 (CEST)
Date last edited N/A

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.