Global Variome shared LOVD

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Phenotype #0000210508 Individual ID 00275909 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-4y; fine motor delay; first words-7y; speech only a few words; received speech/language therapy; severe language disorder (expressive and receptive); Severe intellectual disability; no autism/autistic features; timid; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; no; prominent forehead; widely spaced eyes; normal teeth; high palate; neonatal respiratory distress, feeding problems; vision refractive error; ear tubes; normal heart; normal kidneys; no hernias; pectus chest deformity, joint hypermobility,; hypertrichosis Inheritance Isolated (sporadic) Age/Examination - 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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