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expandother syndrome with lissencephaly as a major feature (MONDO:0015147)
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expandrare disorder with ptosis (MONDO:0020169)
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..expandBaraitser-Winter cerebrofrontofacial syndrome ()

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........expandBaraitser-winter syndrome 2 ()



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..expandAcrootoocular syndrome ()
..expandatrioventricular defect-blepharophimosis-radial and anal defect syndrome ()
..expandBaraitser-Winter cerebrofrontofacial syndrome ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:17579
Name:Baraitser-Winter cerebrofrontofacial syndrome
Definition:Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.
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Synonyms:Baraitser-winter syndrome; BRWS; cerebro-frontofacial syndrome, type 3; Fryns-Aftimos syndrome; iris coloboma with ptosis hypertelorism and mental retardation; trigonocephaly ptosis coloboma; trigonocephaly ptosis mental retardation
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