Global Variome shared LOVD

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Phenotype #0000324906 Individual ID 00434657 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., 6m-developmental delay; 3y-walk, uses ankle foot orthotics; intellectual disability, no speech; intellectual disability; developmental delay; no learning disability; no attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; no hypotonia; dystonia; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; no enlarged cisterna magna; facial asymmetry; epicanthal fold ; dysmorphic ears; asthma; no joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; no clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain polymicrogyria and pachygyria Inheritance Isolated (sporadic) Age/Examination 09y08m (9 years, 8 months) 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 2023-04-07 11:01:02 +02:00 (CEST) Date last edited 2023-04-07 13:26:06 +02:00 (CEST)

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