Global Variome shared LOVD

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Phenotype #0000317229 Individual ID 00426065 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth microcephaly; profound global developmental delay; decreased central tone; increased peripheral tone; increased deep tendon reflexes; increased plantar reflexes; 1m-seizures; cortical visual impairment; feeding difficulties; prominent metopic suture; wide nasal bridge; pronounced cupids bow; large prominent ears; high arched palate; lissencephaly/pachygyria; agenesis corpus callosum/severe hypogenesis corpus callosum; dysplastic basal ganglia; no enlarged posterior fossa; mild cerebellar hypoplasia; hyperopia with astigmatism, clinodactyly Inheritance Familial, autosomal recessive Age/Examination 3y (3 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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