Global Variome shared LOVD

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Phenotype #0000155310 Individual ID 00207532 Associated disease epilepsy Phenotype details Infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features (Anteverted nares, tented upper lip), pectus excavatum, and mild flexion contractures of all fingers bilaterally. Alkaline phosphatase levels ranged from normal to mildly elevated. No evidence of metabolic bone disease. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y08m (8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 19:53:58 +01:00 (CET) Date last edited N/A

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