1. Mendelian
  2. Rare Disease Genes
  3. REV3L

REV3L gene related symptoms and diseases

All the information presented here about the REV3L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to REV3L gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Multiple cafe-au-lait spots Very Common - Between 80% and 100% cases
Microdontia Very Common - Between 80% and 100% cases
Open mouth Very Common - Between 80% and 100% cases
Hypogonadotrophic hypogonadism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with REV3L gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Cranial nerve paralysis
  • Reduced number of teeth
  • Abnormality of the voice
  • Mask-like facies
  • Aplasia/Hypoplasia of the thumb
  • Ophthalmoplegia
  • Aplasia/Hypoplasia of the radius
  • Blepharitis

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to REV3L gene

Here you will find a list of rare diseases related to the REV3L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MOEBIUS SYNDROME

Alternate names

MOEBIUS SYNDROME Is also known as mÖbius syndrome, congenital facial diplegia

Description

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.

Most common symptoms of MOEBIUS SYNDROME

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Muscular hypotonia
  • Cleft palate


More info about MOEBIUS SYNDROME

SOURCES: ORPHANET


Potential gene panels for REV3L gene

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel
Germany.

REV3L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the REV3L gene.

More info about this panel
United States.

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