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.' ClassificationOpitz and Sutherland (1984) reported on a conference in which fragile X mental retardation and X-linked mental retardation of numerous other types were discussed. The report contains a rather comprehensive discussion by Opitz of the nosology of X-linked mental retardation. Mulley et al. (1992) reviewed nomenclature guidelines for X-linked mental retardation.Raymond (2006) reviewed the diagnosis and classification of X-linked mental retardation and discussed the phenotypes associated with genes causing syndromic and nonsyndromic mental retardation.

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

SOURCES: MESH OMIM ORPHANET

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


Potential gene panels for USP27X gene

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

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 panel
United States.

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.

USP27X Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the USP27X gene.

More info about this panel
United States.

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