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Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation MeSH Supplementary Concept Data 2024


MeSH Supplementary
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation
Unique ID
C565462
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565462
Registry Number
0
Heading Mapped to
*Blepharoptosis
*Coloboma
Iris / *abnormalities
*Intellectual Disability
Frequency
0
Note
mutation in ACTB gene; also listed as Baraitser Winter Syndrome 1
Date of Entry
2012/11/05
Revision Date
2013/11/06
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation Preferred
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