SON gene related symptoms and diseases

All the information presented here about the SON 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.

Top 5 symptoms and clinical features associated to SON gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypermetropia Very Common - Between 80% and 100% cases
Small hand Very Common - Between 80% and 100% cases
Thin vermilion border Very Common - Between 80% and 100% cases
Joint hypermobility Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SON gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Arachnodactyly
  • Smooth philtrum
  • Facial asymmetry
  • Abnormality of the cerebral white matter
  • Full cheeks
  • Short philtrum
  • Craniosynostosis
  • Autistic behavior

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

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Rare diseases associated to SON gene

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


BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME


Alternate names

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome, zhu-tokita-takenouchi-kim syndrome

Description

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

Most common symptoms of BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for SON gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5

More info about this panel


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