Global Variome shared LOVD

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Phenotype #0000161578 Individual ID 00213097 Associated disease ? Diagnosis/Initial developmental syndrome Diagnosis/Definite - Phenotype details growth retardation, intellectual disability, microcephaly, hypotonia, upslanting palpebral fissures, bifid flat nasal tip, median ridge on philtrum, wide mouth, foot ray anomaly (implantation fourth ray (bilateral)) Inheritance Familial, autosomal dominant Age/Examination 13y (13 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 2019-01-09 19:42:06 +01:00 (CET) Date last edited N/A

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