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
Search interest in FRMD4A
Potential gene panels for FRMD4A gene
Mental retardation - different panels Panel
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 panelFRMD4A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FRMD4A 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 NNT MTHFR HNF1A EBF3 TMC8 SNORD118 CHAT