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Young Simpson syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Young Simpson syndrome
Unique ID
C536717
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536717
Entry Term(s)
Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type
Mental retardation unusual facies hypothyroidism
Ohdo Syndrome, SBBYS Variant
Ohdo Syndrome, Say-Barber-Biesecker Variant
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant
SBBYS Variant of Ohdo Syndrome
Say-Barber-Biesecker-Young-Simpson Syndrome
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome
Young-Simpson Syndrome
Registry Number
0
Heading Mapped to
*Congenital Hypothyroidism
*Heart Defects, Congenital
*Joint Instability
*Intellectual Disability
*Blepharophimosis
*Facies
Frequency
21
Note
Sbbyss; Bmrs Sbbys not included
Date of Entry
2010/08/25
Revision Date
2013/10/24
Young Simpson syndrome Preferred
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