Global Variome shared LOVD

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Phenotype #0000271665 Individual ID 00376458 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth-40w; delayed motor development; head control-3.5m; roll-11m; sit-6m; crawl-11m; never walked; severe intellectual disability; no autistic behavior; language comprehension; speech simple two-word sentences; spastic diplegia; wheelchair bound; no infantile hypotonia; no history of regression; epilepsy; EEG high-voltage slow waves with spikes; MRI brain cerebral atrophy; delayed myelination; corpus callosum hypoplasia; round face; no prominent nasal bridge; thin upper lip; short stature; obesity; precocious puberty Inheritance Isolated (sporadic) Age/Examination 27y (27 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 2021-06-24 16:01:16 +02:00 (CEST) Date last edited N/A

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