Global Variome shared LOVD

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Phenotype #0000271664 Individual ID 00376457 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth-39w; delayed motor development; head control-2.5m;; sit-7m; never crawled; 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; no 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 29y (29 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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