Phenotype #0000345067

Individual ID 00456559
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 00y03m (3 months)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Fetal akinesia sequence [HP:0001989]; Neonatal respiratory distress [HP:0002643]; 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]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Rocker bottom foot [HP:0001838]; Scoliosis [HP:0002650]; Abnormality of eye movement [HP:0000496]; Abnormal facial shape [HP:0001999]
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 14:38:47 +01:00 (CET)
Date last edited 2024-10-30 09:01:30 +01:00 (CET)

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