Global Variome shared LOVD

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Phenotype #0000359510 Individual ID 00474717 Associated disease ? Diagnosis/Initial Feingold syndrome Diagnosis/Definite FGLDS1 Phenotype details see paper; ..., complicated pregnancy (maternal nephropathy); birth weight 3,300g; esophageal atresia (surgically corrected); subependymal hemorrhage; 9m-seizures; 4y-not walking, developmental delay; 4y-length 98cm (10-25th), weight 13.5kg (5th), OFC 4 cm (<-2 SD), microcephaly; scaphocephaly, epicanthal folds, down-slanting palpebral fissures, large ears, bulbous nasal tip, dental malocclusion; clinodactyly fifth finger hands, small distal phalanges thumbs, mild brachydactyly feet, contractures wrist/elbow/ankle/ knee, increased muscle tone Inheritance Familial, autosomal dominant Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-24 19:23:04 +01:00 (CET) Date last edited N/A

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