Global Variome shared LOVD

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Phenotype #0000359561 Individual ID 00474768 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite FGLDS1 Phenotype details see paper; ..., weight >95th, height 5-10th, OFC 10th; brachymesophalangy, clynodactyly, hypoplasia 5th finger/toe, hallux valgus; no short palpebral fissures; learning disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; febrile seizures infancy Inheritance Familial, autosomal dominant Age/Examination 41y (41 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 2026-03-25 14:36:19 +01:00 (CET) Date last edited N/A

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