MEF2C gene related symptoms and diseases

All the information presented here about the MEF2C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, 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 MEF2C gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Short foot	Very Common - Between 80% and 100% cases
Broad-based gait	Very Common - Between 80% and 100% cases
Open mouth	Very Common - Between 80% and 100% cases
Epileptic encephalopathy	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MEF2C gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Convex nasal ridge
Febrile seizures
Generalized myoclonic seizures
Everted lower lip vermilion
Stereotypy
Downturned corners of mouth
Iris coloboma
Inability to walk

And 62 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MEF2C gene

Here you will find a list of rare diseases related to the MEF2C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

5Q14.3 MICRODELETION SYNDROME

Alternate names

5Q14.3 MICRODELETION SYNDROME Is also known as monosomy 5q14.3, del(5)(q14.3), mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

Description

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

Most common symptoms of 5Q14.3 MICRODELETION SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about 5Q14.3 MICRODELETION SYNDROME

SOURCES: OMIM ORPHANET

Search interest in MEF2C

Potential gene panels for MEF2C gene

MEF2C Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the MEF2C gene.

MEF2C gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MEF2C gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to MEF2C gene

5Q14.3 MICRODELETION SYNDROME

Alternate names

Description

Most common symptoms of 5Q14.3 MICRODELETION SYNDROME

Search interest in MEF2C

Potential gene panels for MEF2C gene

MEF2C Sequence Analysis Panel

MEF2C Sequence Analysis (Familial Mutation/Variant Analysis) Panel

MEF2C Sequence Analysis (Prenatal Diagnosis) Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

MEF2C Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

Syndromic Autism Panel Panel

Rett-Angelman Syndrome 2nd-Tier Sequencing Panel Panel

NGS Epilepsy/Seizure Panel Panel

Autism Spectrum Disorders 53-Gene Panel Panel

Childhood Epilepsy Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Rett - Angelman Syndrome Panel

MEF2C sequencing Panel

Rett/Angelman Syndrome Deletion/Duplication Panel Panel

MEF2C deletion/duplication analysis Panel

Non-Specific Intellectual Disability Panel Panel

Rett/Atypical Rett Syndrome Panel Panel

Rett/Angelman Syndrome Sequencing Panel Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

STAT Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

Rett/Angelman Syndrome Panel Panel

Rett/Atypical Rett/Angelman Panel

Autism/Intellectual Disability/Multiple Anomalies Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

MEF2C Related Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations - MEF2C Sequence and Del/Dup Analysis Panel

MEF2C Related Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations - MEF2C Sequence Analysis Panel

MEF2C Related Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations - MEF2C Deletion/Duplication Analysis Panel

MEF2C Related Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations - MEF2C Known Point Mutation Analysis Panel

Angelman/Rett Seq Panel

Angelman/Rett Del/Dup Panel

CHOP Epilepsy Panel Panel

Angelman/ Rett Seq + Del/Dup Panel

Mental retardation AD type 20 (sequence analysis of MEF2C gene) Panel

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

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

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Chromosome 5q14.3 Deletion Syndrome via MEF2C Gene Sequencing with CNV Detection Panel

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

Rett Syndrome, Angelman Syndrome and Variant Syndromes Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

MEF2C Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Epileptic Encephalopathy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Brain Malformations / Neuronal Migration Disorders Panel

Angelman Syndrome and Differential Diagnoses Panel

Epilepsy Panel

MEF2C Panel

Epileptic encephalopathy panel Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Mental retardation, autosomal dominant type 20 Panel

MEF2C Gene sequencing Panel