Global Variome shared LOVD

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Phenotype #0000232847 Individual ID 00307022 Associated disease DA Phenotype details see paper; ..., weight <3rd %ile; small mouth (HP:0000160), limited opening (HP:0000211); high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); hip contractures (HP:0003273); no elbow contractures (-HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); camptodactyly, toes (HP:0001836); no contractures of wrists (-HP:0001239); undescended testicles (HP:0000028) Diagnosis/Initial distal arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 1y (1 year) 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 19:52:20 +02:00 (CEST) Date last edited N/A

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