Global Variome shared LOVD

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Phenotype #0000356835 Individual ID 00472026 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 3459g; mild intellectual disability; motor delay; 18m-20m-walk; language delay, speech therapy; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; bilateral hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin Age/Examination 4y (4 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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