Global Variome shared LOVD

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Phenotype #0000219699 Individual ID 00204321 Associated disease BRWS Diagnosis/Initial Baraitser-Winter syndrome Diagnosis/Definite BRWS1 Phenotype details see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; no trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2020-02-08 15:41:21 +01:00 (CET) Date last edited N/A

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