Global Variome shared LOVD

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Phenotype #0000359461 Individual ID 00474668 Associated disease SRS;RSS Diagnosis/Initial Silver-Russell syndrome Diagnosis/Definite SEDKF Growth/Prenatal - Growth/Postnatal - Head/Size - Asymmetry - Abdominal/Symptoms - Phenotype details see paper; ..., clinical diagnosis Silver-Russell syndrome; height 162cm, weight 62kg; pes valgus, sandal grooves; no cutaneous manifestations; no retromicrognathia; large ears, abnormal ears; cataract; no craniosynostosis; no brachydactyly, no genu valgo; kyphoscoliosis; no developmental delay, motor delay, no seizures Inheritance Familial, autosomal recessive Birth_Details - Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-20 12:02:38 +01:00 (CET) Date last edited N/A

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