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Snijders Blok-Campeau syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Snijders Blok-Campeau syndrome
Unique ID
C000729467
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C000729467
Entry Term(s)
IDDMSF
Intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies
SNIBCPS
Registry Numbers
0
Heading Mapped to
*Developmental Disabilities
*Hypertelorism
*Intellectual Disability
*Facies
Note
caused by heterozygous mutation in the CHD3 DNA helicase; OMIM: 618205
Indexing Information
CHD3 protein, human
Date of Entry
2023/10/06
Revision Date
2023/10/10
Snijders Blok-Campeau syndrome Preferred
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