Ohdo Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Ohdo Syndrome

DUPD1
KAT6B

View recommended genes panels

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

— 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

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.

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 Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 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 Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 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 %

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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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