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Variant : CV514166 (GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)) Homo sapiens

Symbol: CV514166
Name: GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)
Condition: Motor delay [RCV000626504]
Clinical Significance: pathogenic
Last Evaluated: 01/01/2017
Review Status: criteria provided, single submitter
Related Genes: ARHGAP11B   CHRFAM7A   CHRNA7   FAN1   GOLGA8H   GOLGA8J   GOLGA8N   GOLGA8O   KLF13   MIR211   MTMR10   OTUD7A   TRPM1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371530,366,065 - 32,899,558CLINVAR
Cytogenetic Map1515q13.2-13.3CLINVAR
Trait Synonyms: Anteverted nares; Anteverted nose; Blepharoptosis; Boxer's nasal deformity; Boxer's nose deformity; Broad-based gait; Concave dorsum of nose; Concave nasal dorsum; Concave nasal ridge; Decreased muscle tone; Deficiency of speech development; Delay in motor development; Delayed early motor milestones; Delayed language development; Delayed motor development; Delayed motor milestones; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Drooping upper eyelid; Easily distracted; EEG with generalized slow activity; EEG with periodic abnormalities; EEG: generalised slow activity; EEG: generalized slow activity; EEG: periodic abnormalities; Eye drop; Eyelid ptosis; Generalized hypotonia; Generalized muscular hypotonia; Hypotonia; Hypotonia, in neonatal onset; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Locomotor delay; Low muscle tone; Low muscle tone, in neonatal onset; Microretrognathia; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Neonatal hypotonia; No development of motor milestones; Nostrils anteverted; Pes valgus; Poor attention span; Poor language development; Poor speech acquisition; Poor speech development; Problem paying attention; Ptosis; Retarded motor development; Retromicrognathia; Saddle nose; Saddle nose deformity; Saddle shaped nasal dorsum; Short attention span; Ski jump nose; Speech and language delay; Speech and language difficulties; Speech delay; Speech difficulties; Upturned nares; Upturned nasal tip; Upturned nasal tips; Upturned nose; Upturned nostrils; Valgus foot deformity; Wide based walk; Wide-based gait



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13613516
Created: 2018-06-12
Species: Homo sapiens
Last Modified: 2019-10-08
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.