Global Variome shared LOVD

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Phenotype #0000142628 Individual ID 00180174 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite Krabbe disease Phenotype details Epilepsy (HP:0001250), status epilepticus (HP:0002133), generalized myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), developmental regression (HP:0002376), small for gestational age (HP:0001518), hemiparesis (HP:0004374), nystagmus (HP:0000639), strabismus (HP:0000486), progressive visual loss (HP:0000529), amblyopia (HP:0000646). Electroneuromyography: axonal abnormality (HP:0003482). Head MRI: leukodystrophy (HP:0002415), death in childhood (HP:0003819) 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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