Global Variome shared LOVD

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Phenotype #0000319021 Individual ID 00428075 Associated disease NDD Diagnosis/Initial neurodevelopmental dealy Diagnosis/Definite - Phenotype details brith at term; absent speech; delayed gross motor development; normal fine motor milestones; severe global developmental delay; 5m-infantile spasms, myoclonic seizures, diagnosed with West syndrome, now with tonic, focal, gelastic, and absence seizures and diagnosed with Lennox-Gastaut syndrome; no autism; hypotonia in infancy, now with hypertonia of extremities; MRI brain normal; unsettled behavioral episodes; no failure to thrive; feeding problems; dysmotility, dysphagia, constipation; no hypoventilation; no vision/eye abnormalities; no hearing impairment; micrognathia, bilaterally inverted nipples; no congenital anomalies Inheritance Isolated (sporadic) Age/Examination 3y7m (3 years, 7 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 2022-12-21 10:47:09 +01:00 (CET) Date last edited N/A

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