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Variant : CV514190 (GRCh37/hg19 22q11.21(chr22:18894835-21505417)) Homo sapiens

Symbol: CV514190
Name: GRCh37/hg19 22q11.21(chr22:18894835-21505417)
Condition: Ear malformation [RCV000626528]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: AIFM3   ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR2   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   GGTLC3   GNB1L   GP1BB   GSC2   HIRA   KLHL22   LZTR1   MED15   MRPL40   P2RX6   PI4KA   PRODH   RANBP1   RIMBP3   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC25A1   SLC7A4   SNAP29   TANGO2   TBX1   THAP7   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   USP41   ZDHHC8   ZNF74  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_18894835)_(21505417_?)del
Human AssemblyChrPosition (strand)Source
GRCh372218,894,835 - 21,505,417CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: Abnormality of the ear; Abnormally close eyes; Attention deficit; Attention deficit disorder; Attention deficit hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder; Clinodactyly; Closely spaced eyes; CUP EAR; Curvature of digit; Decreased blood leukocyte number; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased muscle tone; Decreased orbital separation; Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Dropped arches; Ear anomaly; Elevated palate; Face with broad temples and narrow chin; Failure to thrive; Fallen arches; Flat feet; Flat foot; Generalized hypotonia; Generalized muscular hypotonia; High palate; HYPERACTIVITY OF CHILDHOOD; Hypernasal speech; Hypernasal voice; Hypotelorism; Impaired speech and language development; Impaired speech development; Increased palatal height; Intellectual disability, mild; Language delay; Language delayed; Language development deficit; Late-onset speech development; Leukopenia; Low muscle tone; Low white blood cell count; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation; Nasal speech; Nasal voice; Normocytic anemia; Ocular hypotelorism; Pes planus; Poor language development; Poor speech acquisition; Poor speech development; Poor weight gain; Postnatal failure to thrive; Speech and language delay; Speech and language difficulties; Triangular face; Triangular facial shape; Triangular facies; Undergrowth; Weight faltering

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13611864
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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