Phenotype #0000345018

Individual ID 00456510
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 06y (6 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]; Ptosis [HP:0000508]; Abnormal facial shape [HP:0001999]; Cryptorchidism [HP:0000028]
Protein -
Owner name Frederike Leonie Harms
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Frederike Leonie Harms
Date created 2024-10-28 13:51:12 +01:00 (CET)
Date last edited 2024-10-30 08:59:29 +01:00 (CET)

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