ROBO3 gene related symptoms and diseases
All the information presented here about the ROBO3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ROBO3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| External ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Progressive ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Facial myokymia | Very Common - Between 80% and 100% cases |
| Saccadic smooth pursuit | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ROBO3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myokymia
- Hypoplasia of the pons
- Pendular nystagmus
- Thoracolumbar scoliosis
- Progressive external ophthalmoplegia
- Congenital nystagmus
- Abnormality of eye movement
- Scoliosis
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ROBO3 gene
Here you will find a list of rare diseases related to the ROBO3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS
Alternate names
HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS Is also known as progressive external ophthalmoplegia and scoliosis, hgpps
Description
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Most common symptoms of HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS
- Seizures
- Scoliosis
- Nystagmus
- Sensorineural hearing impairment
- Cognitive impairment
More info about HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS
Search interest in ROBO3
Potential gene panels for ROBO3 gene
ROBO3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ROBO3 gene.
More info about this panel Spain.
Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ROBO3 gene.
More info about this panel Portugal.
Familial Horizontal Gaze Palsy with Progressive Scoliosis Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the ROBO3 gene.
More info about this panel United Kingdom.
Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A
More info about this panel United States.
Gaze palsy, horizontal, with progressive scoliosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ROBO3 gene.
More info about this panel Germany.
Single gene testing ROBO3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ROBO3 gene.
More info about this panel Germany.
ROBO3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ROBO3 gene.
More info about this panel United States.
Neuro-Ophthalmology Panel Panel
Finland.
By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4
More info about this panel Finland.
Gaze palsy, horizontal, with progressive scoliosis Panel
Spain.
By Bioarray
This panel specifically test the ROBO3 gene.
More info about this panel Spain.
Familial Horizontal Gaze Palsy with Progressive Scoliosis , Sequencing ROBO3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ROBO3 gene.
More info about this panel Spain.
Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Progressive External Ophthalmoplegia , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SLC25A4 TWNK ROBO3 RRM2B OPA1 POLG POLG2
More info about this panel Spain.
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