Global Variome shared LOVD

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Phenotype #0000330498 Individual ID 00440586 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 2810g, length 49cm, OFC 35cm; MRI brain enlarged Virchow Robin spaces, tentorial herniation; no cardiac anomalies; hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; severe global developmental delay; only a few words; length short (0.64%); microcephaly (3.0%); 12m-sit, 2y-walked; no seizures; no respiratory problems; no feeding problems; transient neonatal thrombopenia; no abnormalities hand/feet; hypertelorism, epicanthal folds, up-slanting palpebral fissures, synophrys, bulbous nose; no ophthalmological anomalies; eczema Inheritance Isolated (sporadic) Age/Examination 6y (6 years) 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 2023-11-04 14:53:49 +01:00 (CET) Date last edited N/A

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