Global Variome shared LOVD

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

Phenotype #0000319148 Individual ID 00428236 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite - Phenotype details termination pregnancy 24w; reduced fetal movements, polyhydramnios, scalp oedema, pulmonary hypoplasia, missing stomach filling, diaphragmatic protrusion, thoracic kyphoscoliosis; contractures elbows, wrists, fingers, knees, ankles, talipes equinovarus (bilateral); hypertelorism, retrognathia, cleft palate, flat broad nose, low-set ears; hypotrophy of lower leg muscles; internally rotated shoulders, straight ribs, narrow long tubular bones Inheritance Familial, autosomal recessive Age/Examination <0d Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-12-24 16:09:43 +01:00 (CET) Date last edited N/A

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