Global Variome shared LOVD

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Phenotype #0000356828 Individual ID 00472019 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., uncomplicated pregnancy; birth weight 3700g; mild intellectual disability; motor delay; 2y6m-walk; language delay, 2y-first words; height -1.7SD, OFC -0.75SD; normal behavior; no epilepsy; hypotonia (childhood); MRI brain normal; neonatal feeding difficulties, swallowing problems; no eye abnormalities; no hearing loss; joint hypermobility; no scoliosis; pes planus, long fingers, clinodactyly 5th toe; migraine; chronic bladder infections; inverted nipples; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; retrognathia, squared ears with notch Age/Examination 6y (6 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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