Global Variome shared LOVD

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Phenotype #0000210492 Individual ID 00275893 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-2y6m; fine motor delay; first words-1y6m; speech complete sentences; received speech/language therapy; speech/language delay; Borderline intellectual disability (verbal IQ 87, performance IQ 78); no autism/autistic features; attention deficit without hyperactivity; No other behavioral problems; normal weight; normal height; no macrocephaly, no microcephaly; MRI-brain normal; no wide CSF spaces; hypotonia; no epilepsy, no seizures; dystonia, broad based gait; prominent forehead with frontal bossing; widely spaced eyes; teeth malposition; high arched palate; no neonatal issues; convergent strabism, astigmatism, hypermetropia; hyperacusis; normal heart; normal kidneys; no hernias; Joint hyperlaxity, adducted thumbs; pneumonitis, pyelonephritis Inheritance Isolated (sporadic) Age/Examination 4y (4 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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