Phenotype #0000219700

Individual ID 00285858
Associated disease BRWS
Diagnosis/Initial Baraitser-Winter syndrome
Diagnosis/Definite BRWS1
Phenotype details short stature, microcephaly postnatal; intellectual disability, no hearing loss, seizures; no 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 InternationalCreative Commons License
Created by Johan den Dunnen