Global Variome shared LOVD

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Phenotype #0000142604 Individual ID 00180150 Associated disease ? Diagnosis/Initial epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations Diagnosis/Definite LAMSHF Phenotype details (Pharmacoresistant ) epilepsy (HP:0001250), infantile spasms (HP:0012469), cerebral palsy (HP:0100021), congenital microcephaly (HP:0011451), severe global developmental delay (HP:0011344). Head MRI: delayed myelination (HP:0002188), thin corpus callosum (HP:0002079), facial dysmorphism (HP:0001999). 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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