Global Variome shared LOVD

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Phenotype #0000350164 Individual ID 00464102 Associated disease RSTS Diagnosis/Initial Rubinstein-Taybi syndrome Diagnosis/Definite RSTS1 Phenotype details microcephaly, downslanted palpebral fissures, highly arched eyebrow, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability, postnatal growth retardation; strabismus, long eyelashes, supernumerary tooth, low anterior hairline Inheritance Unknown Age/Examination 7.4y Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-22 11:39:16 +01:00 (CET) Date last edited N/A

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