Phenotype #0000161990

Individual ID 00213536
Associated disease DA
Phenotype details distal arthrogryposis with congenital contractures of ankles, fingers, and thumbs, tethered spinal cord, vertebral segmentation anomaly, dysmorphic facial features; 13m unable raise arms above shoulder
Diagnosis/Initial athrogryposis, distal; myopathy, congenital
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 1d
Phenotype/Onset -
Protein -
Owner name Minttu Marttila
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-08-28 11:13:14 +02:00 (CEST)
Date last edited 2013-08-31 16:23:45 +02:00 (CEST)

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