Global Variome shared LOVD

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Phenotype #0000350359 Individual ID 00464305 Associated disease ? Diagnosis/Initial - Diagnosis/Definite SSMG Phenotype details see paper; ..., birth 26w+6; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; no congenital heart disease; bilateral central cortical cataract; short stature; rhizomelic shortening; no joint laxity; mild developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma Inheritance Isolated (sporadic) Age/Examination 3y (3 years) 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 2025-03-01 09:13:49 +01:00 (CET) Date last edited N/A

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