Global Variome shared LOVD

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Phenotype #0000352852 Individual ID 00467640 Associated disease ? Diagnosis/Initial - Diagnosis/Definite COXPD23 Phenotype details see paper; ..., neurological disorders; mental motor retardation, seizure, spasticity in lower extremities, severe learning disability, thrombocytopenia; MRI delayed myelination; no cardiac anomalies Inheritance Familial, autosomal recessive Age/Examination 10y3m (10 years, 3 months) Age/Diagnosis - Age/Onset 3m 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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