Global Variome shared LOVD

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Phenotype #0000317232 Individual ID 00426068 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth microcephaly; severe global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes, brisk; 4m-5m seizures; EEG modified hypsarrhythmia; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; no high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, scoliosis Inheritance Familial, autosomal recessive Age/Examination 5y (5 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 2022-11-27 14:10:09 +01:00 (CET) Date last edited N/A

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