Global Variome shared LOVD

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Phenotype #0000271668 Individual ID 00376461 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth-41w; delayed motor development; head control-6m; roll-6m; sit-11m; crawl-18m; walk-48m; severe intellectual disability; autistic behavior; no language comprehension; no speech; spastic diplegia; able to walk; infantile hypotonia; no history of regression; no epilepsy; MRI brain cerebral atrophy; delayed myelination; corpus callosum hypoplasia; round face; prominent nasal bridge; thin upper lip; long and thick eyebrows, upper slanted palpebral fissures, anteverted nares, short philtrum; no short stature; no obesity; no precocious puberty Inheritance Isolated (sporadic) Age/Examination 5y (5 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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