Global Variome shared LOVD

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

Phenotype #0000345070 Individual ID 00456562 Associated disease FADS Phenotype details Anhydramnios [HP:0025700]; Distal amyotrophy [HP:0003693]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999]; Hydrops fetalis [HP:0001789]; Increased nuchal translucency [HP:0010880]; Talipes equinovarus [HP:0001762] Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Frederike Leonie Harms Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Frederike Leonie Harms Date created 2024-10-28 15:09:45 +01:00 (CET) Date last edited 2024-10-30 09:08:53 +01:00 (CET)

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