GABRA5 gene related symptoms and diseases

All the information presented here about the GABRA5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GABRA5 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Drooling Very Common - Between 80% and 100% cases
Low-set, posteriorly rotated ears Very Common - Between 80% and 100% cases
Autistic behavior Very Common - Between 80% and 100% cases
Short philtrum Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GABRA5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Synophrys
  • Joint hypermobility
  • Broad nasal tip
  • Tetralogy of Fallot
  • Stereotypy
  • Precocious puberty
  • Deeply set eye
  • Unilateral renal agenesis

And 31 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GABRA5 gene

Here you will find a list of rare diseases related to the GABRA5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DUPLICATION/INVERSION 15Q11


Alternate names

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15), non-distal tetrasomy 15q, isodicentric 15 chromosome, non-telomeric tetrasomy 15q, idic(15)

Description

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

Most common symptoms of DUPLICATION/INVERSION 15Q11

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about DUPLICATION/INVERSION 15Q11

SOURCES: ORPHANET MESH


Potential gene panels for GABRA5 gene

Autism Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19

More info about this panel

GABRA5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GABRA5 gene.

More info about this panel


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