Global Variome shared LOVD

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Phenotype #0000352848 Individual ID 00467636 Associated disease ? Diagnosis/Initial - Diagnosis/Definite CAMRQ1 Phenotype details see paper; ..., neurological disorders; neuromotor developmental delay, severe learning disability, delayed psychosocial development, chronic constipation, strabismus; MRI periventricular hyperintensity, vermis and bilateral cerebellar hemisphere hypoplasia, pachygyria; no cardiac anomalies Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset <6m Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-24 22:46:25 +02:00 (CEST) Date last edited N/A

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