Global Variome shared LOVD

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Phenotype #0000352892 Individual ID 00467740 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., language delay, global low cognitive function without intellectual developmental disorder; 18m-walk; speech delay, 3y-regression of acquisition, improvement, now fluent; no autism spectrum disorder; normal behavior; no seizures; MRI brain left frontal peri-natal ischemic sequels; ears posteriorly rotated, tip of the nose arched, nostrils very anteverted, small mouth; fetal padds; no postnatal growth retardation; generalized hyperlaxity, scoliosis  Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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