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  2. Rare Disease Genes
  3. SOX2-OT

SOX2-OT gene related symptoms and diseases

All the information presented here about the SOX2-OT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SOX2-OT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hemivertebrae Very Common - Between 80% and 100% cases
Tracheoesophageal fistula Very Common - Between 80% and 100% cases
Anophthalmia Very Common - Between 80% and 100% cases
Chorioretinal coloboma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SOX2-OT gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Patent foramen ovale
  • Optic nerve hypoplasia
  • Holoprosencephaly
  • Hypogonadotrophic hypogonadism
  • Vertebral fusion
  • Abnormal vertebral morphology
  • Heterotopia
  • Abnormality of the genital system

And 61 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SOX2-OT gene

Here you will find a list of rare diseases related to the SOX2-OT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Alternate names

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, microphthalmia and esophageal atresia syndrome, mcops3, syndromic microphthalmia type 3

Description

Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

Most common symptoms of ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

SOURCES: ORPHANET OMIM



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