Global Variome shared LOVD

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Phenotype #0000351328 Individual ID 00465928 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite BRYLIB2 Phenotype details see paper; ..., small for gestational age; short stature, failure to thrive; global developmental delay, intellectual disability, no speech; microcephaly, hypotonia, possible craniosynostosis; MRI brain leukoencephalopathy; plagiocephaly, heavy eyebrows, deep set eyes, long eyelashes, down-slanting palpebral fissures, thin upper lips, hypodontia hypertrichosis trunk, sparse hair scalp, camptodactyly 4th/5th finger; retinal degeneration, dysplastic optic nerve; scoliosis Inheritance Isolated (sporadic) Age/Examination 14y (14 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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