Global Variome shared LOVD

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Phenotype #0000073437 Individual ID 00095049 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details straight eyebrows, upslanted palpebral fissures, thin upper lip vermilion, relative microcephaly (HC 10th percentile), global developmental delay, sleep disorder, hypotonic face with drooling, generalized hypotonia, mild ataxia Inheritance Isolated (sporadic) Age/Examination 06y (6 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 2017-01-05 19:50:12 +01:00 (CET) Date last edited N/A

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