Cataract-intellectual Disability-hypogonadism Syndrome

Description

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Clinical Features

Top most frequent phenotypes and symptoms related to Cataract-intellectual Disability-hypogonadism Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Cataract
  • Cryptorchidism

And another 88 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

Cataract-intellectual Disability-hypogonadism Syndrome Is also known as martsolf syndrome, cataract-mental retardation-hypogonadism.

Researches and researchers

Doctors, researchs, and experts related to Cataract-intellectual Disability-hypogonadism Syndrome extracted from public data.

Cataract-intellectual Disability-hypogonadism Syndrome Experts map



Current Researchs and researchers

  • BIRMINGHAM — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource


  • BIRMINGHAM — Ms Shanaz PASHA

    Coordinator of research network

    • Institution/s:
      — Birmingham Women's NHS Foundation Trust
    • Research area/topic::

      National Autozygosity Mapping Resource


  • CAMBRIDGE — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource



Mendelian

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Cataract-intellectual Disability-hypogonadism Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

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

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
50 %
Comprehensive Brain Malformation Panel.

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

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Microcephaly.

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

STIL, SLC9A6, CDKL5, TCF4, UBE3A, RAB18, SLC25A19, ZEB2, CASK, PCNT, RAB3GAP1, RAB3GAP2, CENPJ, IER3IP1, CDK5RAP2, ASPM, TUBB3, WDR62, DHCR7, NIPBL , (...)

View the complete list with 8 more genes
Specificity
8 %
Genes
100 %
Polymicrogyria Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, RAB18, CCND2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, RTTN, TUBA1A, TUBB3, KIF1BP, WDR62, GPSM2, TUBB2B, ADGRG1, OCLN
Specificity
13 %
Genes
100 %
Cerebral Cortical Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, VLDLR, ACTB, RAB18, ACTG1, RAB3GAP1, RAB3GAP2, FKRP, ARX, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, KIF1BP, WDR62, DCX, TUBB2B, FKTN, ADGRG1 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
4 %
Genes
100 %
Warburg Micro Syndrome Comprehensive Panel.

By Genetic Services Laboratory University of Chicago (United States).

RAB18, TBC1D20, RAB3GAP1, RAB3GAP2
Specificity
50 %
Genes
100 %
Polymicrogyria Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

TUBA8, RAB18, CCND2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, RTTN, TUBA1A, TUBB3, KIF1BP, WDR62, GPSM2, TUBB2B, ADGRG1, OCLN
Specificity
13 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Symptoms Checker

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