Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/palate, And/or Mental Retardation; Cob1

Description

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Clinical Features

Top most frequent phenotypes and symptoms related to Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/palate, And/or Mental Retardation; Cob1

  • Intellectual disability
  • Pica
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Ptosis
  • Cleft palate
  • Cataract
  • Visual impairment
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/palate, And/or Mental Retardation; Cob1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
YAP1.

By Fulgent Genetics Fulgent Genetics in United States.

YAP1
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %


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