Global Variome shared LOVD

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Phenotype #0000351333 Individual ID 00465933 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite BRYLIB2 Phenotype details see paper; ..., intrauterine growth retardation; birth possible seizure activity, immature thermoregulation; short stature, advanced bone age, congenital hypothyroidism; global developmental delay, motor delay, speech delay, happy demeanor, stereotypic flying of arms; microcephaly, hypotonia, abnormal gait; prominent forehead, posteriorly rotated ears, prominent eyebrows, hemangioma over glabella, blue sclerae, down-slanting palpebral fissures, upturned nose, midface hypoplasia, thin upper lip, small mouth, micrognathia, high arched palate; esotropia; scoliosis, hypermobility; bicuspid aortic valve, partial fusion aortic leaflets; shallow dental roots Inheritance Isolated (sporadic) Age/Examination 8y (8 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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