Phenotype #0000219698

Individual ID 00204320
Associated disease BRWS
Diagnosis/Initial Baraitser-Winter syndrome
Diagnosis/Definite BRWS1
Phenotype details no short stature; 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 No license selected
Created by Johan den Dunnen
Date created 2020-02-08 15:35:21 +01:00 (CET)
Date last edited N/A

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