Global Variome shared LOVD

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Phenotype #0000356842 Individual ID 00472033 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Familial, autosomal dominant Phenotype details see paper; ..., IVF/ICSI pregnancy; birth weight 2488g; moderate intellectual disability; motor delay; 21m-walk; language delay; height <-2.5SD, OFC +0.5SD; normal behavior; epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; small hands/feet; obesity; hemiparesia left; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-01-05 20:42:40 +01:00 (CET) Date last edited N/A

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