Global Variome shared LOVD

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Phenotype #0000210494 Individual ID 00275895 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; no walking yet; fine motor delay; no speech; did not receive speech/language therapy; no speech; severe intellectual disability; no autism/autistic features; no ADHD/ADD; always pleasant in behaviour; weight <-2.5 SD; height <-2.5 SD; microcephaly; MRI-brain normal (except for microcephaly); no wide CSF spaces; hypotonia; no epilepsy, no seizures; spastic tetraplegia; sloping forehead; widely spaced eyes; large teeth; normal palate; neonatal feeding problems, PEG tube; normal vision; normal hearing; normal heart; normal kidneys; no hernias; severe orthopedic problems hip, feet. Luxations of thumbs, wrists, shoulders on young age, not anymore; unilateral choane atresia + hypoplastic epilglottis. Siallorhea requiring botox and radiotherapy. Inheritance Isolated (sporadic) Age/Examination 15y (15 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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