Global Variome shared LOVD

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Phenotype #0000041337 Individual ID 00054658 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; born 32w, necrotizing enterocolitis, chronic lung disease, dysmorphic, brachyphalangy, 2–3 toe syndactyly, elbow/knee flexion contractures, severe bilateral hip dysplasia; 5m intractable seizure disorder with multifocal spike and slow wave activity on EEG followed by developmental regression; 2y died of respiratory infection; congenital cataracts, intermittent episodes abdominal distress, vomiting, growth failure normal OFC, normal growth; MRI brain normal in neonates, 9m loss of white matter and cerebral volume, ... Inheritance Familial, autosomal recessive 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 2015-11-07 17:45:42 +01:00 (CET) Date last edited 2015-11-07 18:54:47 +01:00 (CET)

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