Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV514204 (GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)) Homo sapiens

Symbol: CV514204
Name: GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
Condition: Autistic disorder of childhood onset [RCV000626542]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: AC124242.1   ADAM28   ADAM7   ADAMDEC1   ASAH1   ATP6V1B2   BIN3   BMP1   C8orf48   C8orf58   CCAR2   CDCA2   CHMP7   CNOT7   CSGALNACT1   DLC1   DMTN   DOCK5   DOK2   EBF2   EGR3   ENTPD4   FAM160B2   FGF17   FGF20   FGL1   GFRA2   GNRH1   HR   INTS10   KCTD9   LGI3   LONRF1   LOXL2   LPL   LZTS1   MICU3   MIR320A   MSR1   MTMR7   MTUS1   NAT1   NAT2   NEFL   NEFM   NKX2-6   NKX3-1   NPM2   NUDT18   PCM1   PDGFRL   PDLIM2   PEBP4   PHYHIP   PIWIL2   POLR3D   PPP3CC   PSD3   R3HCC1   REEP4   RHOBTB2   SFTPC   SGCZ   SH2D4A   SLC18A1   SLC25A37   SLC39A14   SLC7A2   SORBS3   STC1   TNFRSF10A   TNFRSF10B   TNFRSF10C   TNFRSF10D   TRMT9B   TUSC3   VPS37A   XPO7   ZDHHC2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37812,580,104 - 25,947,329CLINVAR
Cytogenetic Map88p23.1-21.2CLINVAR
Trait Synonyms: Bitemporal narrowing; Bitemporal narrowness; Bitemporal skull narrowing; Broad flat nasal bridge; Broad nasal root; Broadened nasal bridge; Decreased projection of lower jaw; Decreased projection of mandible; Decreased size of lower jaw; Decreased size of mandible; Decreased width of the forehead; Deficiency of lower jaw; Deficiency of speech development; Delayed fine motor development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Impaired speech and language development; Impaired speech development; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Intellectual disability, mild; Intertemporal narrowing; Language delay; Language delayed; Language development deficit; Late-onset speech development; Little lower jaw; Little mandible; Low-set ears; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrognathia; Lower jaw retrusion; Lowset ears; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Melotia; Mental retardation, borderline-mild; Micrognathia; Micrognathia of lower jaw; Micromandible; Mild and nonprogressive mental retardation; Mild mental retardation; Narrow bitemporal diameter; Narrow bitemporal width; Narrow forehead; Nasal bridge broad; Poor language development; Poor speech acquisition; Poor speech development; Retrusion of lower jaw; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Speech and language delay; Speech and language difficulties; Temporal narrowness; Underdevelopment of lower jaw; Underdevelopment of mandible; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13611882
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE



NHLBI Logo

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