FLII gene related symptoms and diseases
All the information presented here about the FLII gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FLII gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Retinal detachment | Very Common - Between 80% and 100% cases |
Abnormal form of the vertebral bodies | Very Common - Between 80% and 100% cases |
Open mouth | Very Common - Between 80% and 100% cases |
Hypertriglyceridemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FLII gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Decreased fetal movement
- Microcornea
- Sleep disturbance
- Cleft upper lip
- Hoarse voice
- Delayed puberty
- Toe syndactyly
- Synophrys
And 62 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FLII gene
Here you will find a list of rare diseases related to the FLII. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SMITH-MAGENIS SYNDROME
Alternate names
SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome
Description
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
Most common symptoms of SMITH-MAGENIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about SMITH-MAGENIS SYNDROME
SOURCES: ORPHANET
Search interest in FLII
Potential gene panels for FLII gene
FLII Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the FLII gene.
More info about this panelFLII Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FLII gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like G6PD KNL1 DRD4 MYH11 ZNF507 IARS2 RPL31