Global Variome shared LOVD

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Phenotype #0000292629 Individual ID 00399524 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight 36.2 (+1.5), height 128.5 (-1.5), OFC 51 (-1); no growth failure; developmental/intellectual delay; 18m-walk; speech delay, first words mildly delayed, good conversation; no hypotonia; seizures, 20m-three febrile seizures; MRI brain normal; behavioural anomalies, emotional, sensitive, attention disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; normal hands; normal feet; no feeding difficulties; facial dysmorphism, short nose, anteverted nares Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2022-01-21 14:10:33 +01:00 (CET) Date last edited N/A

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