Global Variome shared LOVD

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Phenotype #0000257454 Individual ID 00362041 Associated disease ? Diagnosis/Initial intellectual disability Diagnosis/Definite - Phenotype details intellectual disability; motor developmental delay; speech delay; ataxia; no seizures; normal tone; MRI brain cerebellar vermian hypoplasia; long face; deep philtrum; tall forehead; high nasal bridge; straight eyebrows; strabismus; small ear lobes; short and broad chin; thick vermillion of upper and lower lips; dysarthria, pectus excavatum, thin and scooped nails, orchiopexy for undescended testicles, very mild hypospadias, strabismus surgery, intoeing due to femoral anteversion, attention deficit disorder, gastroesophageal reflux, possible eosinophilic esophagitis Inheritance Isolated (sporadic) Age/Examination 16y6m (16 years, 6 months) 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 2021-04-15 11:18:09 +02:00 (CEST) Date last edited N/A

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