Global Variome shared LOVD

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Phenotype #0000210513 Individual ID 00275914 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-2y6m; fine motor delay; speech sentences, often not accurately constructed; received speech/language therapy; delayed speech/language development, formal diagnosis not known; developmental delay; autistic features; active, difficulty to gain attention; normal weight; normal height; no macrocephaly, no microcephaly; no wide CSF spaces; no hypotonia; no epilepsy, no seizures; no; frontal bossing; normal teeth; normal palate; neonatal feeding problems; normal vision; normal hearing; normal heart; normal kidneys; no male genital abnormalities; ingunial hernia; no skeletal anomalies, no joint anomalies; Inheritance Isolated (sporadic) Age/Examination 4y5m (4 years, 5 months) 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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