Phenotype #0000128786

Individual ID 00163650
Associated disease arthrogryposis
Inheritance Familial, autosomal recessive
Diagnosis/Initial Fetal akinesia deformation sequence
Age/Examination -
Diagnosis/Definite Multiple pterygium syndrome, lethal type
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)
Protein -
Owner name Florian Erger
Database submission license No license selected
Created by Florian Erger
Date created 2018-04-03 16:50:18 +02:00 (CEST)
Date last edited 2018-04-04 08:23:00 +02:00 (CEST)

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