Global Variome shared LOVD

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Phenotype #0000308357 Individual ID 00416847 Associated disease PMGYS Phenotype details brain magnetic resonance imaging: diffuse pachygyria; additional clinical featuresshort stature, moderate intellectual disability, bilateral metatarsus primus varus Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Polymicrogyria with seizures [MIM 614833] Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

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