Global Variome shared LOVD

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Phenotype #0000297029 Individual ID 00404437 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 38w length 43 cm (-3.05 SD)birth 38w length 43 cm (-3.05 SD), weight 2.1 kg (-2.25 SD), OFC 31.5 cm (-1.51 SD); height 83.0 cm (-1.5 SD), weight 10.69 kg (-1.4 SD), OFC 46.5 cm (-2.38 SD); Autism, bruxism, stereotypical hand wringing; MRI normal; global developmental delay; horizontal eyebrow, long eyelashes; chronic constipation; sacral dimple; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; normal haematopoiesis, normal iImmune functioning; Inheritance Isolated (sporadic) Age/Examination 2y3m (2 years, 3 months) 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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