Global Variome shared LOVD

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Phenotype #0000297034 Individual ID 00404442 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth length 50 cm (-0.12 SD)birth length 50 cm (-0.12 SD), weight 2.815 kg (-1.33 SD), OFC 33.3 cm (-1.01 SD); height 152 cm (-1.88 SD), weight 48.65 kg (-1.06 SD), OFC 52.5 cm (-2.12 SD); no neurological abnormalities; MRI normal; walk at 18 months, language delay, severe intellectual disability, agitation, attention disorder, sleep disorder; large mouth; Gastroesophageal reflux; normal skin; no urogenital anomalies; no skeletal anomalies; no hearing loss; normal vision; precocious puberty (8 years) Inheritance Isolated (sporadic) Age/Examination 16y6m (16 years, 6 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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