Global Variome shared LOVD

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Phenotype #0000283602 Individual ID 00390063 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Severe intellectual disability, failure to thrive, microcephaly, spasticity, large prominent teeth, dysplastic ears, sparse eyebrows, high arched palate, short stature, frequent otitis media, dry skin, broad thumbs, sparse teeth, hypoplastic teeth Inheritance Isolated (sporadic) Age/Examination 27y (27 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 2021-11-09 16:34:00 +01:00 (CET) Date last edited N/A

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