Global Variome shared LOVD

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Phenotype #0000356839 Individual ID 00472030 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., uncomplicated pregnancy; birth weight 4030g; intellectual disability; motor delay; 15m-walk; language delay, 2y-first words; height -0.5SD, OFC +0.8SD; Incidental aggressive behavior; no epilepsy; no hypotonia (childhood); MRI brain small retrocerebellar cyst; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; mild joint hypermobility; no scoliosis; long fingers/toes, clinodactyly 5th finger; sleeping difficulties; hypopigmentation hair; long ears; upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; no pointed chin; small nasal bridge, squared ears with notch Age/Examination 7y (7 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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