Global Variome shared LOVD

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Phenotype #0000355614 Individual ID 00470718 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; 24m-sit; 3y-walk; speech 3y-first words, single words; moderate-severe intellectual disability; no autism spectrum disorder; behaviour quiet; no epilepsy; MRI normal; broad forehead, thick eyebrow, low set ears, thin upper lip; microphthalmia (left); bilateral foot polydactyly, left hand postaxial polydactyly, bilateral clinodactyly, hallux valgus; short stature Age/Examination 49y (49 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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