Jalili Syndrome

Description

Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI; see this term) and cone-rod retinal dystrophy (CORD; see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Jalili Syndrome

  • Nystagmus
  • Visual impairment
  • Optic atrophy
  • Blindness
  • Abnormality of the dentition
  • Visual loss
  • Photophobia
  • Pallor
  • Nyctalopia
  • Carious teeth

And another 17 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.

Alternative names

Jalili Syndrome Is also known as cone rod dystrophy-amelogenesis imperfecta syndrome, cone-rod dystrophy and amelogenesis imperfecta.

Researches and researchers

Doctors, researchs, and experts related to Jalili Syndrome extracted from public data.

Jalili Syndrome Experts map



Current Researchs and researchers

  • LEEDS — Pr Chris INGLEHEARN

    Investigator of research project

    • Institution/s:
      — Leeds Institute of Molecular Medicine, St James's University Hospital
    • Research area/topic::

      Development of a diagnostic test for Jalili Syndrome through CNNM4 mutation analysis


  • LEEDS — Dr Alan j MIGHELL

    Investigator of research project

    • Institution/s:
      — Leeds Institute of Molecular Medicine, St James's University Hospital
    • Research area/topic::

      Development of a diagnostic test for Jalili Syndrome through CNNM4 mutation analysis



Mendelian

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Jalili Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cone-Rod Dystrophy Panel.

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

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Jalili syndrome (sequence analysis of CNNM4 gene).

By CGC Genetics (Portugal).

CNNM4
Specificity
100 %
Genes
100 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Cone-Rod Dystrophy via CNNM4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4
Specificity
100 %
Genes
100 %
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20
Specificity
6 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Jalili syndrome.

By Centogene AG - the Rare Disease Company (Germany).

CNNM4
Specificity
100 %
Genes
100 %

We have 22 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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