ASH1L gene related symptoms and diseases

All the information presented here about the ASH1L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ASH1L gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Pectus carinatum Very Common - Between 80% and 100% cases
Hyperactivity Very Common - Between 80% and 100% cases
Autism Very Common - Between 80% and 100% cases
Deeply set eye Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ASH1L gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Anxiety
  • Developmental regression
  • Autistic behavior
  • Short philtrum
  • Prominent nasal bridge
  • Absent speech
  • Synophrys
  • Downturned corners of mouth

And 27 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ASH1L gene

Here you will find a list of rare diseases related to the ASH1L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 52; MRD52

SOURCES: OMIM


Potential gene panels for ASH1L gene

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2

More info about this panel

Autism Spectrum Disorders/Intellectual Disability via ASH1L Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ASH1L gene.

More info about this panel

ASH1L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASH1L gene.

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RMND1 RWDD2A STEAP3 FAM84A

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