Global Variome shared LOVD

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Phenotype #0000318685 Individual ID 00427670 Associated disease ID Diagnosis/Initial syndromic intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., moderate developmental delay; delayed speech, severe language delay; self-abusive behavior, severe sleep initiation disorder; no seizures; infantile hypotonia, unsteady wide-based gait; MRI brain normal; OFC 3rd centile, weight 50th-75th centile, length 25th-50th centile; down-sloping palpebral fissures, slightly depressed nasal bridge; hyperextensible joints Age/Examination 3y (3 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 2022-12-09 16:55:11 +01:00 (CET) Date last edited N/A

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