Phenotype #0000187440
Individual ID |
00248449 |
Associated disease |
arthrogryposis |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Initial |
distal arthrogryposis |
Age/Examination |
- |
Diagnosis/Definite |
DA-5D |
Age/Diagnosis |
- |
Age/Onset |
1d |
Phenotype/Onset |
- |
Phenotype details |
see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; born at term, breech presentation |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-07-23 23:23:22 +02:00 (CEST) |
Date last edited |
N/A |
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