Septo-optic Dysplasia Spectrum

Description

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

Clinical Features

Top most frequent phenotypes and symptoms related to Septo-optic Dysplasia Spectrum

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Visual impairment

And another 23 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available SEPTO-OPTIC DYSPLASIA SPECTRUM have a estimated birth prevalence of 10 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Septo-optic Dysplasia Spectrum Is also known as sod, septo-optic dysplasia, de morsier syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Septo-optic Dysplasia Spectrum Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS XLID Panel.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
15 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
15 %
X-linked Intellectual Disabilities Sequencing.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
15 %
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 67 more genes
Specificity
2 %
Genes
15 %
SOX3. Complete sequencing Secuenciación completa.

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

SOX3
Specificity
100 %
Genes
15 %
Panhypopituitarism, X-linked (sequence analysis of SOX3 gene).

By CGC Genetics (Portugal).

SOX3
Specificity
100 %
Genes
15 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZNF711, ZNF81, FTSJ1, HDAC8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
15 %
Congenital hypopituitarism (NGS panel for 7 genes).

By CGC Genetics (Portugal).

SOX3, LHX4, HESX1, LHX3, OTX2, POU1F1, PROP1
Specificity
43 %
Genes
43 %

We have 349 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VOGT-KOYANAGI-HARADA DISEASE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more