Global Variome shared LOVD

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Phenotype #0000300870 Individual ID 00408751 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., severe developmental delay/intellectual disability; no autistic behaviour; hypotonia; aspiration; normal nerve conduction studies, EMG myopathic; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; hyper-metropia; renal malformation Age/Examination 9y (9 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 2022-04-27 00:00:11 +02:00 (CEST) Date last edited N/A

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