Global Variome shared LOVD

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Phenotype #0000331098 Individual ID 00303560 Associated disease - Phenotype details see paper; ..., microcephaly; global developmental delay; 12m-sit; 2y-walk; language severely delayed; severe intellectual disability; no seizures; no peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, syndactyly; tone normal; normal power; sensation normal; ataxic gait; reflexes normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2023-11-09 12:03:33 +01:00 (CET) Date last edited N/A

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