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Variant : CV243970 (Single allele) Homo sapiens

Symbol: CV243970
Name: Single allele
Condition: Blepharophimosis [RCV000234882]
Clinical Significance: pathogenic
Last Evaluated: 03/27/2014
Review Status: criteria provided, single submitter
Related Genes: ARID1B   SNX9   TMEM242   ZDHHC14  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh376157,099,064 - 158,366,109CLINVAR
Cytogenetic Map66q25.3CLINVAR
Trait Synonyms: Absent speech; Absent speech development; Ciliary trichomegaly; Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Decreased width of palpebral fissure; Full lower lip; Full lower lip vermilion; Increased height of lower lip vermilion; Increased length of eyelashes; Increased volume of lower lip; Increased volume of lower lip vermilion; Intellectual disability, moderate; Lack of language development; Lack of speech; Long eyelashes; Moderate mental deficiency; Moderate mental retardation; Narrow opening between the eyelids; No speech development; No speech or language development; Nonverbal; Plump lower lip; Prominent lower lip; Prominent lower lip vermilion; Thick lower lip; Thick lower lip vermilion; Thick red part of the lower lip; Thick vermilion border of lower lip; Thin red part of the upper lip; Thin upper lip; Thin upper lip vermilion; THIN UPPER LIPS; Thin vermilion border of upper lip; Unusually long eyelashes

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11522973
Created: 2016-08-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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