Global Variome shared LOVD

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Phenotype #0000330501 Individual ID 00440589 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth weight 2980g, length 49cm, OFC 36cm; MRI brain cerebellar atrophy, megalencephaly; no cardiac anomalies; no hypotonia; no musculoskeletal anomalies; no urogenital anomalies; no hearing loss; global developmental delay; only a few words; length normal (39.7%); no microcephaly (>99%); 2y-walk; 11y-seizures, clonic, generalized and absence; no respiratory problems; no feeding problems; no hematologic problems; no abnormalities hand/feet; high forehead, prognathism, large tip of nose; no ophthalmological anomalies; Inheritance Isolated (sporadic) Age/Examination 21y (21 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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