Global Variome shared LOVD

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Phenotype #0000210505 Individual ID 00275906 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-5y; fine motor delay; first words-4y; speech 20 single words; received speech/language therapy; Speech and language delay, particularly expressive; severe intellectual disability; no autism/autistic features; no ADHD/ADD; no behavioral abnormalities, sociable; normal weight; normal height; macrocephaly; MRI-brain normal; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; broad forehead; widely spaced eyes; normal teeth; submucous cleft palate; neonatal stridor, jaundice, feeding problems; hypermetropia; ear tubes; normal heart; normal kidneys; no hernias; Pes planus and laxiity of large joints; V-shaped sacral crease Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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