U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

11q22.2q22.3 microdeletion syndrome

MedGen UID:
1805294
•Concept ID:
C5680062
•
Disease or Syndrome
Synonyms: 11q22.2-q22.3 deletion syndrome; Del(11)(q22.2q22.3); monosomy 11q22.2-q22.3; Monosomy 11q22.2q22.3; monosomy 11q22.2q22.3
SNOMED CT: 11q22.2q22.3 microdeletion syndrome (1229882003); Monosomy 11q22.2q22.3 (1229882003)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018632
Orphanet: ORPHA444002

Definition

A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV11q22.2q22.3 microdeletion syndrome

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...