Phenotype #0000232852

Individual ID 00307027
Associated disease DA
Phenotype details see paper; ..., weight −1 SD, height 0 SD; small mouth (HP:0000160); pursed lips (HP:0000205), high arched palate (HP:0000218); no limited neck rotation (-HP:0005986); no scoliosis (-HP:0002650); no short stature (-HP:0004322); no hip contractures (-HP:0003273); no elbow contractures (-HP:0002987); no knee contractures (-HP:0006380); camptodactyly, fingers (HP:0100490); no vertical talus (-HP:0001838); equinovarus (HP:0001762); no camptodactyly, toes (-HP:0001836); contractures of wrists (HP:0001239); adducted thumbs (HP:0001181), flexed metacarpophalangeal joints (HP:0006070), fifth finger clinodactyly (HP:0004209)
Diagnosis/Initial distal arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 6m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-27 19:52:20 +02:00 (CEST)
Date last edited N/A

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