Global Variome shared LOVD

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Phenotype #0000254897 Individual ID 00359624 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 36w, weight 2900g (25-50th centile), length 47cm (50th centile); neonatal feeding difficulties, jaundice; weight 45.5kg 13y9m (25-50th centile), BMI 23,55 (+1.85 SD), length 139cm 13y9m (<1st centile), OFC 52.4cm 13y9m (10-25th centile); horseshoe kidney with left vesico-ureteric reflux, pelvicalyceal dilatation kidney, megaureter; moderate hypotonia; mild-moderate intellectual disability; esotropia, hypermetropia, nystagmus; normal hearing; no seizures; dark, straight, heavy eyebrows; normal eyes; normal nose; round face,; mild midface hypoplasia, full cheeks; protruding upper lip, thin vermillion border, maxillary overbite, asymmetric occlusion of teeth; large fleshy ears and earlobes; short neck; hirsutism; short toes Inheritance Isolated (sporadic) Age/Examination 13y (13 years) Age/Diagnosis - Age/Onset 9y9m 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 2021-04-02 17:28:47 +02:00 (CEST) Date last edited N/A

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