Global Variome shared LOVD

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Phenotype #0000351846 Individual ID 00466483 Associated disease ? Diagnosis/Initial developmental delay Diagnosis/Definite MPXPS Phenotype details see paper; ..., 9m-sit; 3y-delay fine motor control; MRI brain multiple congenital malformations, anterior perisylvian polymicrogyria, dysmorphic basal ganglia, cerebellar dysplasia, white matter abnormalities; 12y-prominently hyperreflexic, clonus left side; no microcephaly; no short stature; no poor growth; muscle weakness; hyperopia, amblyopia; extrapyramidal signs; no neuropathy; abnormal gait; seizures; intellectual disability, learning difficulties; developmental delay; speech delay; facial dysmorphisms; no hepatomegaly; elevated CK level; encephalopathy Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - 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 2025-09-08 14:08:56 +02:00 (CEST) Date last edited 2025-09-08 14:17:59 +02:00 (CEST)

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