Global Variome shared LOVD

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Phenotype #0000219688 Individual ID 00204328 Associated disease BRWS2 Phenotype details no short stature, no microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly Diagnosis/Initial Baraitser-Winter syndrome Inheritance Isolated (sporadic) Diagnosis/Definite BRWS2 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2020-02-08 14:43:19 +01:00 (CET) Date last edited N/A

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