NEXMIF gene related symptoms and diseases

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

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Hypsarrhythmia	Very Common - Between 80% and 100% cases
Short philtrum	Very Common - Between 80% and 100% cases
Prominent nasal bridge	Very Common - Between 80% and 100% cases
Severe global developmental delay	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Poor speech
Thin vermilion border
Single transverse palmar crease
Generalized myoclonic seizures
Urinary incontinence
Round face
Underdeveloped nasal alae
Esotropia

And 54 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NEXMIF gene

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

X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Description

X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

SOURCES: OMIM ORPHANET

Search interest in NEXMIF

Potential gene panels for NEXMIF 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

NEXMIF gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NEXMIF gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to NEXMIF gene

X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Description

Most common symptoms of X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Search interest in NEXMIF

Potential gene panels for NEXMIF gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Panel

NGS XLID 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

KIAA2022 gene sequence and deletion/duplication Panel

Mental retardation, X-linked type 98 (sequence analysis of KIAA2022 gene) Panel

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

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Autism Spectrum Disorders 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

Angelman Syndrome and Differential Diagnoses Panel

AllNeuro panel Panel

Mental retardation, X-linked, nonsyndromic Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

KIAA2022-Related X-linked Mental Retardation: KIAA2022 Full Gene Sequencing Panel

KIAA2022-Related X-linked Mental Retardation: KIAA2022 Gene Deletion/Duplication Panel

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

XLID NGS Panel Panel

KIAA2022 Panel

Comprehensive Epilepsy NGS Panel Panel

X-linked Intellectual Disability Panel Panel