Global Variome shared LOVD

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Phenotype #0000243386 Individual ID 00324890 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 34w (monozygotic twin), weight -0,5SD, length -2,3SD, OFC <-2SD; weight -2SD, length -1.5SD, OFC -3.9SD; severe intellectual disability/developemental delay; no seizures; motor delay; 25m-walk; speech delay; 36-42m-first words; autistic behaviour; hyperactivity; anxiety; aggressiveness; feeding difficulties; sleeping disturbance; prominent forehead; almond eyes; flat nasal bridge; thin upper lip; camptodactyly Inheritance Isolated (sporadic) Age/Examination 18y (18 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 2020-12-24 15:03:09 +01:00 (CET) Date last edited 2022-09-30 19:46:32 +02:00 (CEST)

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