Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000132932 Individual ID 00168066 Associated disease SPDRS Phenotype details infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite SPDRS Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-07-18 22:42:38 +02:00 (CEST) Date last edited N/A

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