Global Variome shared LOVD

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Phenotype #0000304351 Individual ID 00412346 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment early childhood; height -1.27 SD, OFC +0.21 SD; no microcephaly; no short stature; intellectual disability; developmental delay; speech not yet achieved; febrile seizures during infancy, seizures as a toddler, responded to antiepileptics; hypotonia diagnosed as a toddler; norml vision; history of recurrent otitis media as an infant/toddler, pressure equalization tubes as a toddler; no dysmorphism; no GI dysmotility/feeding problems; no autism spectrum disorder, notably worsening behavior with fever, self-stimulatory behavior (repetitive flipping of book pages), self-injurious behavior (head banging and biting); no failure to thrive; sleeping difficulties; no skeletal abnormalities; MRI brain normal; Abnormal as a toddler; no cardiac abnormalities 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 2022-06-27 19:18:04 +02:00 (CEST) Date last edited N/A

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