SMS gene related symptoms and diseases

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

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Bifid uvula	Very Common - Between 80% and 100% cases
Broad-based gait	Very Common - Between 80% and 100% cases
Thick lower lip vermilion	Very Common - Between 80% and 100% cases
Intellectual disability, profound	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
High myopia
Wide intermamillary distance
Webbed neck
Generalized myoclonic seizures
Dental crowding
Postural instability
Recurrent fractures
High, narrow palate

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SMS gene

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

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Alternate names

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome, snyder-robinson mental retardation syndrome, srs

Description

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

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

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

SOURCES: MESH ORPHANET OMIM

Search interest in SMS

Potential gene panels for SMS 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

SMS gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SMS gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to SMS gene

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Alternate names

Description

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

Search interest in SMS

Potential gene panels for SMS 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

SMS gene sequence Panel

IDNext Panel

SMS. Complete sequencing Panel

Mental retardation, X-linked, Snyder-Robinson type (sequence analysis of SMS gene) Panel

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

Marfan Syndrome and Related Aortopathies Sequencing Panel with CNV Detection Panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

Snyder-Robinson Syndrome, Spermine Synthase Deficiency via SMS Gene Sequencing 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

Spermine synthase deficiency, Snyder-Robinson (SMS) Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Mental retardation, X-linked, Snyder-Robinson type Panel

AllNeuro panel Panel

Epilepsy and X-linked Mental Retardation with Seizures Panel Panel

Single gene testing SMS Panel

XLMR Snyder-Robinson Type: SMS Full Gene Sequencing Panel

XLMR Snyder-Robinson Type: SMS Gene Deletion/Duplication Panel

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

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

XLID NGS Panel Panel

SMS Panel

Comprehensive Epilepsy NGS Panel Panel

X-chromosome High Resolution microarray analysis Panel

X-linked Intellectual Disability Panel Panel

Comprehensive Epilepsy Panel Panel

Snyder-Robinson syndrome Panel

SNYDER-ROBINSON SYNDROME Panel

X-Linked Mental Retardation Type Snyder-Robinson , Sequencing SMS Gene Panel