Global Variome shared LOVD

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Phenotype #0000348084 Individual ID 00460356 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details see paper; ..., birth weight 3,200g (-1.25), length 51cm (-0.66); height 183cm (+1.77), weight 81kg (+1.75), OFC 63cm (+5.4); 1y5-walk; normal speech; normal comprehension; no regression; mild Intellectual disability; 6m-seizures (cyanotic autonomic focal seizures and rare tonic-clonic); MRI normal; hypotonia; no hypertonia; no movement disorder; no stereotypies; no behavioral anomalies; normal sleep; hypertelorism; normal hearing; normal vision; cannot run; sialorrhea; fast fatiguability Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-24 19:20:35 +01:00 (CET) Date last edited N/A

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