Global Variome shared LOVD

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Phenotype #0000346474 Individual ID 00458024 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite MMDS9B Phenotype details see paper; ..., 10.5m-deceased; 30w+6-birth cesarean section because (worsening maternal hypertension), weight 1130g, 2.5m in neonatal intensive care poor feeding, abdominal distension, initial respiratory distress syndrome; small optic nerves; MRI brain 2m-bilateral thin optic nerves, cerebellar vermis hypoplasia; 4m-bilateral cataracts, urogenital sinus, normal kidneys, normal bladder, normal uterus with gonads; 7m-bilateral immature ovarian parenchyma Inheritance Familial, autosomal recessive Age/Examination 00y10m15d (10 months, 15 days) 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 2024-11-25 19:28:45 +01:00 (CET) Date last edited N/A

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