Global Variome shared LOVD

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Phenotype #0000345017 Individual ID 00456509 Associated disease arthrogryposis Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 08y (8 years) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Decreased fetal movement [HP:0001558]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Camptodactyly of finger [HP:0100490]; Hip dysplasia [HP:0001385]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999] Protein - Owner name Frederike Leonie Harms Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Frederike Leonie Harms Date created 2024-10-28 13:43:23 +01:00 (CET) Date last edited 2024-10-30 08:58:33 +01:00 (CET)

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