Global Variome shared LOVD

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Phenotype #0000317234 Individual ID 00426070 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birht OFC32 (-2.5); severe global developmental delay; severely decreased central tone; increased peripheral tone; increased deep tendon reflexes; 5m-seizures; EEG burst suppression; cortical visual impairment; feeding difficulties; no prominent metopic suture; wide nasal bridge; no pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; enlarged posterior fossa; cerebellar hypoplasia; cryptorchidism, femoral hernia Inheritance Familial, autosomal recessive Age/Examination 5y6m (5 years, 6 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 2022-11-27 14:10:09 +01:00 (CET) Date last edited N/A

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