Global Variome shared LOVD

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Phenotype #0000351806 Individual ID 00466443 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDSID Phenotype details see paper; ..., 4y4m-deceased; uncomplicated pregnancy; birth weight 2410g (-2.9 SD); height 85cm (<-2.5 SD), weight 14kg (-2.3 SD), BMI 19.4 (+1.9 SD), OFC 49cm (-1.4 SD); intellectual disability, learning difficulties; global developmental delay; delayed speech delayed language development; motor delay; behavioral abnormality; sensory aversions; no seizures; hypotonia; morphological abnormalities central nervous system, T2 Hyperintensity; EEG generalized slowing, no epileptiform activity; no joint hypermobility; tapered fingers; gastrojejunal tube feeding, constipation, failure to thrive; facial dysmorphisms, coarse facial features, prominent forehead, anteverted nares, posteriorly rotated ears, epicanthus, downslanted palpebral fissures, wide nasal bridge; common variable immune deficiency; decreased antibody level in blood; pulmonary hypertension; chronic interstitial pulmonary disease; tracheostomy/ ventilator dependent Inheritance Isolated (sporadic) Age/Examination 4y4m (4 years, 4 months) 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 2025-09-05 12:24:33 +02:00 (CEST) Date last edited N/A

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