Ohdo Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Ohdo Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia

And another 63 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.
No data available about the known clinical features onset.

Alternative names

Ohdo Syndrome Is also known as ohdo blepharophimosis syndrome, mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth.

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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Ohdo Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

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

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
NGS RASopathy Panel.

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

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
50 %
KAT6B Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KAT6B
Specificity
100 %
Genes
50 %
KAT6B Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

KAT6B
Specificity
100 %
Genes
50 %
Noonan Spectrum Disorders Panel, Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
7 %
Genes
50 %
Noonan Spectrum Disorders Panel, Sequencing, Fetal.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1
Specificity
7 %
Genes
50 %
KAT6B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KAT6B
Specificity
100 %
Genes
50 %
KAT6B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

KAT6B
Specificity
100 %
Genes
50 %

We have 29 more panels available in our App

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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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