Global Variome shared LOVD

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Phenotype #0000356833 Individual ID 00472024 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite - Inheritance Unknown Phenotype details see paper; ..., pregnancy supine position, cerclage (mother had 5 miscarriages); mild intellectual disability, language dyslexia; no motor delay; language delay, speech therapy in childhood; height -0.5SD, OFC +2SD; attention deficit hyperactivity disorder; no epilepsy; no hypotonia (childhood); no eye abnormalities; hearing loss, 20y-hearing apparatus, Menière disease; no joint hypermobility; no scoliosis; no hand/feet abnormalities; no long ears; no upslanted palpebral fissures; mild downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; no wide mouth; pointed chin; high nasal bridge, slight hypertelorism, attached ear lobules Age/Examination 42y (42 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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