Global Variome shared LOVD

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Phenotype #0000219704 Individual ID 00285862 Associated disease BRWS Diagnosis/Initial Fryns-Aftimos syndrome Diagnosis/Definite BRWS1 Phenotype details see paper; ..., no short stature, no microcephaly postnatal; intellectual disability, no hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; no coloboma; pachygyria only anterior greater than posterior lissencephaly Inheritance Isolated (sporadic) Age/Examination - 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 2020-02-08 15:52:21 +01:00 (CET) Date last edited 2020-02-08 16:00:03 +01:00 (CET)

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