FRMD4A gene related symptoms and diseases

All the information presented here about the FRMD4A 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 FRMD4A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Long eyelashes Very Common - Between 80% and 100% cases
Everted lower lip vermilion Very Common - Between 80% and 100% cases
Highly arched eyebrow Very Common - Between 80% and 100% cases
Abnormal cerebellum morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FRMD4A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Narrow forehead
  • Cerebellar vermis hypoplasia
  • Thick lower lip vermilion
  • Low anterior hairline
  • Thick eyebrow
  • Aplasia/Hypoplasia of the corpus callosum
  • Partial agenesis of the corpus callosum
  • Palpebral edema

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to FRMD4A gene

Here you will find a list of rare diseases related to the FRMD4A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Alternate names

SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Most common symptoms of SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for FRMD4A gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

FRMD4A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FRMD4A gene.

More info about this panel
United States.

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