Chromosome 18 deletion syndrome [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536580
Heading Mapped to:
Entry Terms:
- Chromosome 18q- Syndrome
- 18q- Syndrome
- Chromosome 18q Deletion Syndrome
- Chromosome 18, monosomy 18Q
- Monosomy 18q, deletion 18q
- Monosomy 18q syndrome
- Chromosome 18q syndrome
- 18q syndrome