FBXO31 gene related symptoms and diseases
All the information presented here about the FBXO31 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FBXO31 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Wide nasal bridge | Uncommon - Between 30% and 50% cases |
Coarse facial features | Uncommon - Between 30% and 50% cases |
Deeply set eye | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FBXO31 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Thick eyebrow
- Thick vermilion border
- Prominent supraorbital ridges
Rare diseases associated to FBXO31 gene
Here you will find a list of rare diseases related to the FBXO31. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45
- Intellectual disability
- Seizures
- Wide nasal bridge
- Coarse facial features
- Deeply set eye
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45; MRT45
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in FBXO31
Potential gene panels for FBXO31 gene
Non-Specific Intellectual Disability Panel Panel
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panelMental 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 panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
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 NDUFS4 F5 MAF CNKSR2 GNS MIR3681HG STIM1