Global Variome shared LOVD

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Phenotype #0000270788 Individual ID 00375574 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details congenital hearing loss; mild intellectual disability; speech delay; developmental delay; no obvious dysmorphic facila features; hypotonia from few months of age; no epilepsy; no spasticity; depression, anxiety, disinhibition, and compulsive behavior; no eyes anomalies; normal ears; normal bones; widely spaced toes Inheritance Isolated (sporadic) Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-06-11 18:02:38 +02:00 (CEST) Date last edited N/A

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