Global Variome shared LOVD

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Phenotype #0000243388 Individual ID 00324892 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 39w, weight +0.9SD, length +0.5SD, OFC +1SD; weight -1.35SD, length -1.1SD, OFC +1.5SD; mild intellectual disability/developemental delay; no hypotonia; no seizures; motor delay; 18m-walk; speech delay; no autistic behaviour ; no stereotypies; hyperactivity; anxiety; no aggressiveness; no feeding difficulties; sleeping disturbance; no prominent forehead; no almond eyes; no flat nasal bridge; no thin upper lip; strabismus; hypermetropia, gastro-esophageal reflux during first months of life Inheritance Isolated (sporadic) Age/Examination 09y (9 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 18:58:18 +02:00 (CEST)

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