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Variant : CV514188 (GRCh37/hg19 22q11.21(chr22:18900000-20500000)) Homo sapiens

Symbol: CV514188
Name: GRCh37/hg19 22q11.21(chr22:18900000-20500000)
Condition: Hypertelorism [RCV000626526]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6L   DGCR8   ESS2   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   MRPL40   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SEPTIN5   SLC25A1   TANGO2   TBX1   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   ZDHHC8  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,900,000 - 20,500,000CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Decreased body height; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanted palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Edema of the lower limbs; Excessive orbital separation; Fluid accumulation in lower limbs; Height less than 3rd percentile; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Leg edema; Ocular hypertelorism; Palpebral fissures down-slanted; Peripheral edema of lower extremity; Short stature; Small stature; Stature below 3rd percentile; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13611851
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.