Global Variome shared LOVD

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Phenotype #0000352537 Individual ID 00467330 Associated disease NDD Diagnosis/Initial fetal akinesia Diagnosis/Definite SHFYNG Phenotype details see paper; ..., contractures; dysmorphic facial features; no hypogonadism; normal feet; no short stature; decreased fetal movement; no scoliosis Inheritance Familial Age/Examination <0d Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-12 13:45:09 +02:00 (CEST) Date last edited N/A

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