Global Variome shared LOVD

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Phenotype #0000232838 Individual ID 00307013 Associated disease DA Phenotype details weight 8.8%ile, height <1%ile; small mouth (HP:0000160); no cleft lip & palate (-HP:0410030, -HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); camptodactyly, toes (HP:0001836); contractures of wrists (HP:0001239); undescended testicles (HP:0000028) Diagnosis/Initial distal arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 6y6m (6 years, 6 months) 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

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