Global Variome shared LOVD

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Phenotype #0000284177 Individual ID 00390641 Associated disease MRD Diagnosis/Initial - Diagnosis/Definite - Phenotype details Thick lower lip vermilion, Flared nostrils, Hyperopic astigmatism, Strabismus, Deeply set eye, Thick eyebrow, Stereotypy, Global developmental delay, Absent speech, Localized hirsutism, Thickened ears, Delayed ability to walk, Recurrent hand flapping Inheritance Isolated (sporadic) Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-11-11 11:34:53 +01:00 (CET) Date last edited 2021-11-11 13:56:56 +01:00 (CET)

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