IQSEC2 gene related symptoms and diseases

All the information presented here about the IQSEC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,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 IQSEC2 gene

Symptoms // Phenotype	% Cases
Seizures	Common - Between 50% and 80% cases
Intellectual disability	Common - Between 50% and 80% cases
Delayed speech and language development	Common - Between 50% and 80% cases
EEG abnormality	Common - Between 50% and 80% cases
Brachycephaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IQSEC2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Autistic behavior
Global developmental delay
Strabismus
Stereotypy
Precocious puberty
Hoarse voice
Poor speech
Toe syndactyly

And 94 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to IQSEC2 gene

Here you will find a list of rare diseases related to the IQSEC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MICRODUPLICATION XP11.22-P11.23 SYNDROME

Alternate names

MICRODUPLICATION XP11.22-P11.23 SYNDROME Is also known as trisomy xp11.22-p11.23

Description

Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

Most common symptoms of MICRODUPLICATION XP11.22-P11.23 SYNDROME

Intellectual disability
Seizures
Delayed speech and language development
Intellectual disability, severe
Intellectual disability, mild

More info about MICRODUPLICATION XP11.22-P11.23 SYNDROME

SOURCES: ORPHANET OMIM MESH

SMITH-MAGENIS SYNDROME

Alternate names

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Description

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Most common symptoms of SMITH-MAGENIS SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Microcephaly

More info about SMITH-MAGENIS SYNDROME

SOURCES: ORPHANET

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

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

SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME

Alternate names

SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME Is also known as iqsec2-related syndromic intellectual disability

Description

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.

More info about SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME

SOURCES: ORPHANET

Search interest in IQSEC2

Potential gene panels for IQSEC2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

IQSEC2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to IQSEC2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to IQSEC2 gene

MICRODUPLICATION XP11.22-P11.23 SYNDROME

Alternate names

Description

Most common symptoms of MICRODUPLICATION XP11.22-P11.23 SYNDROME

SMITH-MAGENIS SYNDROME

Alternate names

Description

Most common symptoms of SMITH-MAGENIS SYNDROME

X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

Alternate names

Description

Most common symptoms of X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY

AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2

Description

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

SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE POSTNATAL MICROCEPHALY-MIDLINE STEREOTYPIC HAND MOVEMENTS SYNDROME

Alternate names

Description

Search interest in IQSEC2

Potential gene panels for IQSEC2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID Panel Panel

NGS Epilepsy/Seizure 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

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

CHOP Epilepsy Panel Panel

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

Rett and Rett-like syndrome (NGS panel of 8 genes) Panel

Rett and Rett-like syndrome (NGS panel of 8 genes) Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Intellectual Disability (Syndromic and Non-Syndromic) via IQSEC2 Gene Sequencing with CNV Detection Panel

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

Epilepsy and Seizure Plus 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

Mental retardation, X-linked type 1 Panel

AllNeuro panel Panel

IQSEC2 Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Epilepsy Panel

qCarrier Plus Panel

Invitae Epilepsy Panel Panel

Invitae Rett and Angelman Syndromes and Related Disorders Panel Panel

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

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

IQSEC2 Panel

Early-Onset Epileptic Encephalopathy NGS Panel Panel

Comprehensive Epilepsy NGS Panel Panel

X-linked Intellectual Disability Panel Panel

Comprehensive Epilepsy Panel Panel