Global Variome shared LOVD

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Phenotype #0000351324 Individual ID 00465924 Associated disease NDD Diagnosis/Initial neurodegenerative delay Diagnosis/Definite BRYLIB1 Phenotype details see paper; ..., prenatal unremarkable, uneventful; birth respiratory distress, difficulty feeding; short stature, failure to thrive; global developmental delay (gross/fine motor and speech), happy demeanor, water affinity; microcephaly, hypotonia, wide-based gait mild, spasticity lower extremities; MRI brain moderately diminished white matter in anterior halves both cerebral hemispheres along with hypomyelination accompanied by ventriculomegaly; facial asymmetry, hypoplastic helix, long and upslanting palpebral fissures, prognathia, long thin fingers, camptodactyly, fingertip pads; esotropia; joint hypermobility, pes planus; no cardiac anomalies Inheritance Isolated (sporadic) Age/Examination 10y (10 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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