Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness; Commad

Clinical Features

Top most frequent phenotypes and symptoms related to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness; Commad

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Macrocephaly
  • Frontal bossing
  • Microphthalmia
  • Posteriorly rotated ears
  • Telecanthus

And another 11 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness; Commad Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Waardenburg Syndrome Type 2.

By Center for Human Genetics, Inc (United States).

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Type 2A - MITF Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome, Type 2 - MITF Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

MITF
Specificity
100 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SDHB, SDHC, SDHD, EPCAM, TP53, TSC1, TSC2, VHL, WT1, FLCN, FH, GPC3, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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