USP27X gene related symptoms and diseases
All the information presented here about the USP27X gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to USP27X gene
Symptoms // Phenotype | % Cases |
---|---|
Behavioral abnormality | Very Common - Between 80% and 100% cases |
Intellectual disability | Very Common - Between 80% and 100% cases |
Absent speech | Very Common - Between 80% and 100% cases |
Neonatal hypotonia | Uncommon - Between 30% and 50% cases |
Plagiocephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with USP27X gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Postnatal microcephaly
- Poor speech
- Hypermetropia
- Autistic behavior
- Aggressive behavior
- Brachycephaly
- Macrotia
- Seizures
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to USP27X gene
Here you will find a list of rare diseases related to the USP27X. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as mrx, mrx18, mental retardation, x-linked 78, mrx78, mental retardation, x-linked 18
Description
Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.'
Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY
MENTAL RETARDATION, X-LINKED 105; MRX105
Most common symptoms of MENTAL RETARDATION, X-LINKED 105; MRX105
- Intellectual disability
- Behavioral abnormality
- Absent speech
More info about MENTAL RETARDATION, X-LINKED 105; MRX105
SOURCES: OMIM
Search interest in USP27X
Potential gene panels for USP27X gene
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
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 panelUSP27X Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the USP27X 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 LRAT AKR1D1 SRPX2 CLN8 LEPR FBXO11 MYC