ROBO1 gene related symptoms and diseases
All the information presented here about the ROBO1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ROBO1 gene
|Symptoms // Phenotype||% Cases|
|Intellectual disability||Very Common - Between 80% and 100% cases|
|Delayed puberty||Very Common - Between 80% and 100% cases|
|Septo-optic dysplasia||Very Common - Between 80% and 100% cases|
|Ectopic posterior pituitary||Very Common - Between 80% and 100% cases|
|Abnormality of the hypothalamus-pituitary axis||Very Common - Between 80% and 100% cases|
Other less frequent symptoms and clinical featuresPatients with ROBO1 gene alterations may also develop some of the following symptoms and phenotypes:
Commonly - More than 50% cases
- Adrenal hypoplasia
- Diabetes insipidus
- Primary amenorrhea
- Hypoplasia of penis
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ROBO1 gene
Here you will find a list of rare diseases related to the ROBO1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PITUITARY STALK INTERRUPTION SYNDROME
PITUITARY STALK INTERRUPTION SYNDROME Is also known as psis, ectopic neurohypophysis
Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.
Most common symptoms of PITUITARY STALK INTERRUPTION SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Failure to thrive
More info about PITUITARY STALK INTERRUPTION SYNDROME
Search interest in ROBO1
Potential gene panels for ROBO1 gene
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ROBO1 gene.More info about this panel
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