NLGN4X gene related symptoms and diseases

All the information presented here about the NLGN4X gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to NLGN4X gene

Symptoms // Phenotype	% Cases
Autism	Very Common - Between 80% and 100% cases
Stereotypy	Very Common - Between 80% and 100% cases
Impaired use of nonverbal behaviors	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 and clinical features

Patients with NLGN4X gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Lack of spontaneous play
Not very common - Between 30% and 50% cases
Intellectual disability
Seizures
Delayed speech and language development
Atrial septal defect
EEG abnormality
Autistic behavior
Increased serum serotonin

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NLGN4X gene

Here you will find a list of rare diseases related to the NLGN4X. 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
Atrial septal defect
Autism

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

SOURCES: MESH OMIM

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2

Description

Asperger syndrome is considered to be a form of childhood autism (see, e.g., {209850}). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.For a discussion of genetic heterogeneity of Asperger syndrome, see {608638}.

Most common symptoms of ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2

Absent speech
Autism
Stereotypy
Impaired use of nonverbal behaviors
Inflexible adherence to routines or rituals

More info about ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2

SOURCES: OMIM

Search interest in NLGN4X

Potential gene panels for NLGN4X gene

Syndromic Autism Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1

NLGN4X gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NLGN4X gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Rare diseases associated to NLGN4X gene

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

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

ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2

Description

Most common symptoms of ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2; ASPGX2

Search interest in NLGN4X

Potential gene panels for NLGN4X gene

Syndromic Autism Panel Panel

NGS XLID Panel Panel

Autism Spectrum Disorder (Neuroligin 3/4) Panel

Autism Spectrum Disorders 53-Gene Panel Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Non-Specific Intellectual Disability Panel Panel

X-linked Non-Specific Intellectual Disability Panel Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AutismNext Panel

CustomNext: Neuro Panel

NLGN4X gene sequence and deletion/duplication Panel

Neurodevelopment-Expanded Panel

IDNext Panel

NLGN4. Complete sequencing Panel

NLGN4X. Complete sequencing Panel

Asperger syndrome X-linked 2 (sequence analysis of NLGN4X gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Autism Spectrum Disorders (ASD) via NLGN4X Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Brain Malformations / Neuronal Migration Disorders Panel

Autism susceptibility X-linked type II Panel

AllNeuro panel Panel

Autism Spectrum Disorders / Intellectual Disability Disorder Panel

Single gene testing NLGN4X Panel

Autism Spectrum Disorders Panel

qCarrier Plus Panel

Mental retardation, X-linked, non-syndromic Panel

Autism Panel

NLGN4X-Related X-Linked Susceptibility to Autism Spectrum Disorder: NLGN4X Full Gene Sequencing Panel

NLGN4X-Related X-Linked Susceptibility to Autism Spectrum Disorder: NLGN4X Gene Deletion/Duplication Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Autism Spectrum Disorders: Tier 2 Panel Panel

Autism Spectrum Disorders: Tier 2 Deletion/Duplication Panel Panel

Autism NGS Panel Panel

XLID NGS Panel Panel

NLGN4X Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Autism Spectrum Disorders Panel Panel

Mental retardation, X-linked Panel

X-Linked Asperger Syndrome , Sequencing NLGN4X Gene Panel

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes Panel

X-Linked Asperger Syndrome , Panel Massive Sequencing (NGS) NLGN3, NLGN4X Genes Panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

X-Linked Nonsyndromic Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes Panel