Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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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