Global Variome shared LOVD

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Phenotype #0000142623 Individual ID 00180169 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite ACLS Phenotype details Epilepsy (HP:0001250), focal seizures (HP:0007359), developmental delay (HP:0001263), spastic ataxia (HP:0002497), nystagmus (HP:0000639), strabismus (HP:0000486), facial dysmorphism (HP:0001999), bilateral postaxial polydactyly (of hands and feet) (HP:0006136). Head MRI: ventriculomegaly (HP:0002119). Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-08-24 19:40:22 +02:00 (CEST) Date last edited N/A

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