Global Variome shared LOVD

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Phenotype #0000304338 Individual ID 00412333 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details last assessment toddler; OFC -0.26 SD; no microcephaly; walking not yet achieved; developmental delay; regression of babbling as a toddler, currently no speech; axial hypotonia; normal joints; frequent inducible episodes with dystonic posturing of distal arms and legs, oculogyric spasms and ending with repetitive tongue thrusting and lip smacking; bilateral dissociated vertical deviation with associated nystagmus, astigmatism; normal hearing; no dysmorphism; GERD; no sleeping difficulties; no skeletal abnormalities; laryngomalacia; MRI brain normal; EEG normal; Sinus bradycardia 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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