Phenotype #0000219708

Individual ID 00285866
Associated disease BRWS
Diagnosis/Initial Baraitser-Winter syndrome
Diagnosis/Definite BRWS1
Phenotype details trigonocephaly; high arched eyebrows; ptosis; hypertelorism; broad nasal bridge; broad nasal tip, columella; anteverted nostrils; macrostomia; very high and narrow palate; low-set, long, dysplastic ears; low posterior hairline, webbed neck, frontal pachygyria, congenital pterygia axillae and elbows, duplicated halluces, genital anomalies, bilateral hydronephrosis, duplication right collecting system; moderate intelleectual disability, severely impaired speech; 20s-died of severe respiratory failure
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 16:18:40 +01:00 (CET)
Date last edited N/A

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