Global Variome shared LOVD

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Phenotype #0000308989 Individual ID 00417509 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details weight P25-P50, height P10-P25, OFC P25; motor delay; speech delay/abnormalities; hypotonia; no repetitive/stereotypical movements; epilepsy; intellectual disability; learning difficulties; no autism spectrum disorder; no attention-deficit/hyperactivity disorder; no encopresis; sleeping difficulties; optic nerve hypoplasia, cortical visual disorders, intermittent nystagmus, hypermetropia; scoliosis; no dermatological anomalies Inheritance Isolated (sporadic) Age/Examination 4y6m (4 years, 6 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 2022-09-18 16:53:08 +02:00 (CEST) Date last edited N/A

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