Global Variome shared LOVD

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Phenotype #0000351332 Individual ID 00465932 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite BRYLIB2 Phenotype details see paper; ..., small for gestational age; global developmental delay, speech delay, developmental regression, autism; microcephaly, hypotonia, ataxia, seizures; MRI brain normal; astigmatism blindness left eye; hypermobility; dysphagia, vomiting, congenial malformation small bowel; recurrent otitis media, velvety/hyperextensible skin, patchy hair, soft hair Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-19 10:58:58 +02:00 (CEST) Date last edited N/A

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