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.

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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


Potential gene panels for FLII gene

FLII Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the FLII gene.

More info about this panel

FLII Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FLII gene.

More info about this panel


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