Global Variome shared LOVD

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Phenotype #0000352845 Individual ID 00467633 Associated disease ? Diagnosis/Initial - Diagnosis/Definite PERCHING Phenotype details see paper; ..., fetal akinesia, intra-uterine growth retardation, 30wg-developmental dela; neuromotor developmental delay, inability to walk, inability to talk, spasticity, microcephaly, severe learning disability, fetal akinesia, iugr, perinatal asphyxia, y shaped syndactyly, hypospadias, scoliosis, intestinal obstruction; MRI periventricular hyperintensity, thin corpus callosum, third and lateral ventricles dilated; no cardiac anomalies Inheritance Familial, autosomal recessive Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 0d 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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