Global Variome shared LOVD

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Phenotype #0000142603 Individual ID 00180149 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite BOPS Phenotype details Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), intrauterine growth retardation (HP:0001511), severe failure to thrive (HP:0001525), microcephaly (HP:0000252), severe global developmental delay (HP:0011344), atrial septum defect (HP:0001631), sensorineural hearing impairment (HP:0000407), myopia (HP:0000545), facial dysmorphism: bitemporal narrowing (HP:0000341), sparse hair (HP:0008070). Inheritance Familial, autosomal dominant 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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