C12orf57 gene related symptoms and diseases

All the information presented here about the C12orf57 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,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 C12orf57 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Highly arched eyebrow	Very Common - Between 80% and 100% cases
Intellectual disability, profound	Very Common - Between 80% and 100% cases
Bilateral sensorineural hearing impairment	Very Common - Between 80% and 100% cases
Progressive visual loss	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with C12orf57 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Convex nasal ridge
Renal agenesis
Esotropia
Prominent nose
Microcornea
Iris coloboma
Dental crowding
Long face

And 76 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to C12orf57 gene

Here you will find a list of rare diseases related to the C12orf57. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

TEMTAMY SYNDROME

Alternate names

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome, craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome, mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Description

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

Most common symptoms of TEMTAMY SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about TEMTAMY SYNDROME

SOURCES: ORPHANET MESH OMIM

Search interest in C12orf57

Potential gene panels for C12orf57 gene

Non-Specific Intellectual Disability Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1

C12orf57 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to C12orf57 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to C12orf57 gene

TEMTAMY SYNDROME

Alternate names

Description

Most common symptoms of TEMTAMY SYNDROME

Search interest in C12orf57

Potential gene panels for C12orf57 gene

Non-Specific Intellectual Disability Panel Panel

Autosomal Recessive Non-Specific Intellectual Disability Panel 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

Eye Diseases - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

AllNeuro panel Panel

Selected Genetic Syndromes with Seizures Panel Panel

Developmental Eye Disease panel Panel

Invitae Epilepsy Panel Panel

C12orf57 Panel

Comprehensive Epilepsy NGS Panel Panel

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel