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Telomeric 22q13 Monosomy Syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Telomeric 22q13 Monosomy Syndrome
Unique ID
C536801
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536801
Entry Term(s)
22q13 Deletion Syndrome
22q13.3 Deletion Syndrome
Chromosome 22q13.3 Deletion Syndrome
Deletion 22q13 Syndrome
Deletion 22q13.3 Syndrome
Monosomy 22q13
Phelan-McDermid Syndrome
Registry Numbers
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 22
*Chromosome Disorders
Frequency
150
Note
A developmental disorder caused by heterozygous deletion of the portion of chromosome 22 that includes the SHANK3 gene, or by mutations in SHANK3. It is characterized by neonatal HYPOTONIA, normal to accelerated growth, LANGUAGE DEVELOPMENT DISORDERS, autistic behavior, and minor dysmorphic features. OMIM: 606232.
Date of Entry
2010/08/25
Revision Date
2016/07/05
Telomeric 22q13 Monosomy Syndrome Preferred
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