Global Variome shared LOVD

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

Phenotype #0000232841 Individual ID 00307016 Associated disease DA Phenotype details analysis at birth (37w+2); weight 3–10%ile (1,820 g); no small mouth (-HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); no limited neck rotation (-HP:0005986); scoliosis (HP:0002650); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); no undescended testicles (-HP:0000028); short neck (HP:0000470) Diagnosis/Initial distal arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1d Age/Diagnosis - Age/Onset - 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 2020-07-27 19:22:39 +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.