Global Variome shared LOVD

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Phenotype #0000356843 Individual ID 00472034 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Unknown Phenotype details see paper; ..., birth weight 2940g; mild intellectual disability; motor delay; 18m-walk; language delay; height <-2.5SD, OFC -1.5SD; normal behavior; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; oligospermia; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin Age/Examination >18y (later than 18 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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