Phenotype #0000219701

Individual ID 00285859
Associated disease BRWS
Diagnosis/Initial Baraitser-Winter syndrome
Diagnosis/Definite BRWS1
Phenotype details short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-02-08 15:52:21 +01:00 (CET)
Date last edited 2020-02-08 15:55:37 +01:00 (CET)

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