1. Mendelian
  2. Rare Disease Genes
  3. CXorf36

CXorf36 gene related symptoms and diseases

All the information presented here about the CXorf36 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE.

Top 5 symptoms associated to CXorf36 gene



Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Childhood onset Very Common - Between 80% and 100% cases
Lack of spontaneous play Very Common - Between 80% and 100% cases
Inflexible adherence to routines or rituals Very Common - Between 80% and 100% cases
Restrictive behavior Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with CXorf36 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Impaired use of nonverbal behaviors

Not very common - Between 30% and 50% cases

Increased serum serotonin

Commonly - More than 50% cases

Multifactorial inheritance

Not very common - Between 30% and 50% cases

Stereotypy

Commonly - More than 50% cases

Seizures

Not very common - Between 30% and 50% cases

X-linked inheritance

Commonly - More than 50% cases

Sporadic

Not very common - Between 30% and 50% cases

EEG abnormality

And 4 more phenotypes.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CXorf36 gene

Here you will find a list of rare diseases related to the CXorf36. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Most common symptoms of AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Heterogeneous
  • Autism


More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

SOURCES: MESH MONDO UMLS OMIM

Potential gene panels for CXorf36 gene

CXorf36 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the CXorf36 gene.

More info about this panel

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NR2F1 FOXP1