Global Variome shared LOVD

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Phenotype #0000355646 Individual ID 00470750 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 9m-sit; not walking yet; speech not much, babbling/some screaming; no epilepsy; no facial dysmorphism; no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; no endocrine features; poor feeding Age/Examination 10m 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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