Global Variome shared LOVD

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Phenotype #0000355625 Individual ID 00470729 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; 23m-walk; speech 3y6m-4y-first words, single words; moderate-severe intellectual disability; autism spectrum disorder (5th grade cluster); behaviour frequently brings objects/body parts to mouth; no epilepsy; MRI normal; prominent forehead, broad nasal root, low hanging columella with thin alae nasi, prominent anthelix, high arch palate with dental crowding, everted lower lip, elongated neck; strabismus (bilateral); flat chest with delayed breast development and puberty (Tanner stage 2) Age/Examination 11y (11 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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