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Chromosome 18 deletion syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Chromosome 18 deletion syndrome
Unique ID
C536580
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536580
Entry Term(s)
18q syndrome
18q- Syndrome
Chromosome 18, monosomy 18Q
Chromosome 18q Deletion Syndrome
Chromosome 18q syndrome
Chromosome 18q- Syndrome
Monosomy 18q syndrome
Monosomy 18q, deletion 18q
Registry Number
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 18
*Chromosome Disorders
Frequency
48
Note
Deletion of chromosome 18q results in highly variable phenotypes including INTELLECTUAL DISABILITY; HYPOTONIA; HEARING LOSS, short stature, and foot deformities. Tapered digits and wide mouth may also occur. Inheritance of this deletion is autosomal dominant. OMIM: 601808
Date of Entry
2010/08/25
Revision Date
2015/08/18
Chromosome 18 deletion syndrome Preferred
Chromosome 18, monosomy 18Q Narrower
Chromosome 18q syndrome Narrower
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