Global Variome shared LOVD

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Phenotype #0000331106 Individual ID 00441681 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; global developmental delay; 12m-sit; language delayed; moderate intellectual disability; no seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; scoliosis; tone reduced; power reduced; sensation reduced; ataxic gait; reflexes normal; Inheritance Familial, autosomal recessive Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-09 12:18:41 +01:00 (CET) Date last edited N/A

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