Phenotype #0000239247

Individual ID 00315496
Associated disease FADS
Phenotype details see paper; multiple pterygia; fetal akinesia sequence; arthrogryposis multiplex congenita; cystic hygroma; hydrops fetalis; polyhydramnios; intaruterine growth restriction; camptodactyly; ulnar deviation of finger; long philtrum; downslanted palpebral fissures; hypertelorism; low-set ears
, ...
Diagnosis/Initial fetal akinesia deformation sequence
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination <00y00m00d (before )
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 10:50:39 +01:00 (CET)
Date last edited N/A

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