Global Variome shared LOVD

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Phenotype #0000355639 Individual ID 00470743 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; 14m-sit; 26m-walk; speech 19m-first words, single words but not targeted; no autism spectrum disorder; no epilepsy; flat facial profile, thin upper lip; 21m-no ophthalmological features; no skin lesions; no anomalies digits; no skeletal abnormalities; atrial septal defect type II; normal kidney; no endocrine features Age/Examination 2y (2 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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