Phenotype #0000239248

Individual ID 00315497
Associated disease FADS
Phenotype details see paper; decreased fetal movements; polyhydramnios; arthrogryposis multiplex congenita; hypoplasia musculature; posteriorly rotated ears; microretrognathia, ...
Diagnosis/Initial fetal akinesia deformation sequence
Inheritance Familial, autosomal recessive
Diagnosis/Definite FADS4
Age/Examination -
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 2020-10-27 15:53:04 +01:00 (CET)
Date last edited N/A

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