Phenotype #0000219693

Individual ID 00204335
Associated disease BRWS
Diagnosis/Initial Baraitser-Winter syndrome
Diagnosis/Definite BRWS2
Phenotype details see paper; ..., short stature, microcephaly postnatal; intellectual disability, hearing loss, seizures; trigonocephaly, hypertelorism, high-arched eyebrows, congenital ptosis; coloboma; pachygyria-band anterior greater than posterior lissencephaly
Inheritance Isolated (sporadic)
Age/Examination 18y (18 years)
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 15:05:54 +01:00 (CET)
Date last edited 2020-02-08 15:21:16 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.