Phenotype #0000228778

Individual ID 00301677
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial EDS
Age/Examination -
Diagnosis/Definite EDSSPD1
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., 3 affected pregnancies showing short limbs, cystic hygroma, perinatal death; 2 spontaneously aborted; 1 survived 1 day after term delivery short limbs, bell-shaped thorax, 11 ribs, absent thumbs, cleft palate
Hearing/Loss -
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
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 2020-05-20 09:21:51 +02:00 (CEST)
Date last edited N/A

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