Global Variome shared LOVD

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Phenotype #0000232837 Individual ID 00307012 Associated disease DA Phenotype details weight 8%ile; small mouth (HP:0000160); cleft lip & palate (HP:0410030, HP:0000175); limited neck rotation (HP:0005986); scoliosis (HP:0002650); short stature (HP:0004322); hip contractures (HP:0003273); elbow contractures (HP:0002987); knee contractures (HP:0006380); camptodactyly, fingers (HP:0100490); vertical talus (HP:0001838); no equinovarus (-HP:0001762); no camptodactyly, toes (-HP:0001836); no contractures of wrists (-HP:0001239) Diagnosis/Initial distal arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 24y (24 years) 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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