Global Variome shared LOVD

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Phenotype #0000355627 Individual ID 00470731 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; no hypotonia; 1y9m-walk; speech 1y-first words, full sentences; mild intellectual disability; no autism spectrum disorder; behaviour anxiety; no epilepsy; MRI megacisterna magna; dolichocephaly, prominent forehead, depressed nasal bridge, anteverted nares, high arched palate; no ophthalmological features; left hand postaxial polydactyly; no heart defect; normal kidney Age/Examination 10y (10 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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