Global Variome shared LOVD

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Phenotype #0000270405 Individual ID 00375195 Associated disease ? Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHND Phenotype details congenital hypotonia; profound weakness; areflexia; seizures, severe drug resistant epilepsy; severe speech delay; global developmental delay; cortical visual impairment; axonal motor neuropathy; MRI brain abnormalities; feeding difficulties, gastrostomy tube; respiratory difficulties Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) 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 2021-05-29 22:08:10 +02:00 (CEST) Date last edited N/A

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