EMX2 gene related symptoms and diseases

All the information presented here about the EMX2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, 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 EMX2 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Cerebral cortical atrophy	Uncommon - Between 30% and 50% cases
Porencephalic cyst	Uncommon - Between 30% and 50% cases
Aplasia/Hypoplasia of the corpus callosum	Uncommon - Between 30% and 50% cases
Holoprosencephaly	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EMX2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Hemiparesis
Spastic tetraplegia
Tetraplegia
Inability to walk
Paralysis
EEG abnormality
Agenesis of corpus callosum
Seizures

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EMX2 gene

Here you will find a list of rare diseases related to the EMX2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

SCHIZENCEPHALY

Description

Brunelli et al. (1996) described schizencephaly as an extremely rare congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. The clefts are lined with gray matter and most commonly involve the parasylvian regions (Wolpert and Barnes, 1992). Large portions of the cerebral hemispheres may be absent and replaced by cerebrospinal fluid. Two types of schizencephaly have been described, depending on the size of the area involved and the separation of the cleft lips (Wolpert and Barnes, 1992). Type I schizencephaly consists of a fused cleft. This fused pial-ependymal seam forms a furrow in the developing brain, and is lined by polymicrogyric gray matter. In type II schizencephaly, there is a large defect, a holohemispheric cleft in the cerebral cortex filled with fluid and lined by polymicrogyric gray matter. The clinical manifestations depend on the severity of the lesion. Patients with type I are often almost normal; they may have seizures and spasticity. In type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness.Schizencephaly may be part of the larger phenotypic spectrum of holoprosencephaly (HPE; see {236100}).

Most common symptoms of SCHIZENCEPHALY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about SCHIZENCEPHALY

SOURCES: ORPHANET OMIM

ACQUIRED SCHIZENCEPHALY

More info about ACQUIRED SCHIZENCEPHALY

SOURCES: ORPHANET

Search interest in EMX2

Potential gene panels for EMX2 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1

EMX2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to EMX2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to EMX2 gene

SCHIZENCEPHALY

Description

Most common symptoms of SCHIZENCEPHALY

ACQUIRED SCHIZENCEPHALY

Search interest in EMX2

Potential gene panels for EMX2 gene

Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS Epilepsy/Seizure Panel Panel

Comprehensive Brain Malformation Panel Panel

Septo-Optic Dysplasia and Schizencephaly Panel

Schizencephaly (sequence analysis of EMX2 gene) Panel

Mental retardation - different panels Panel

Schizencephaly Panel

Schizencephaly Panel

AllNeuro panel Panel

EMX2 Panel

Neuronal Migration Disorders Panel Panel

Neuronal Migration Disorders Panel Panel

Single gene testing EMX2 Panel

qChip Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

EMX2 Panel

Comprehensive Epilepsy NGS Panel Panel

Neuronal Migration Disorder Panel Panel

FAMILIAL SCHIZENCEPHALY Panel

Schizencephaly , Panel Massive Sequencing (NGS) 4 Genes Panel