Global Variome shared LOVD

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Phenotype #0000309927 Individual ID 00418591 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 37w+6 (monozygotic twin), length -1,5SD, OFC +0.5SD; weight -2SD, length -3SD, OFC +0SD; severe intellectual disability/developemental delay; hypotonia; seizures; motor delay; speech delay; autistic behaviour; stereotypies; feeding difficulties; prominent forehead; almond eyes; no flat nasal bridge; thin upper lip; mild deafness, absent eye contact Inheritance Isolated (sporadic) Age/Examination 08y (8 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 2022-09-30 19:39:25 +02:00 (CEST) Date last edited N/A

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