GABBR2 gene related symptoms and diseases

All the information presented here about the GABBR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GABBR2 gene

Symptoms // Phenotype % Cases
Intellectual disability Common - Between 50% and 80% cases
Inability to walk Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GABBR2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Short foot
  • Apnea
  • Self-injurious behavior
  • Developmental regression
  • Developmental stagnation
  • Dystonia
  • Bruxism
  • Sleep disturbance

And 103 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GABBR2 gene

Here you will find a list of rare diseases related to the GABBR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TOBACCO ADDICTION, SUSCEPTIBILITY TO


Alternate names

TOBACCO ADDICTION, SUSCEPTIBILITY TO Is also known as nicotine dependence, susceptibility to, nicotine dependence, protection against, smoking habit, susceptibility to, nicotine addiction, susceptibility to, cigarette habituation, susceptibility to


More info about TOBACCO ADDICTION, SUSCEPTIBILITY TO

SOURCES: MESH OMIM

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59


Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

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


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59; EIEE59

SOURCES: OMIM

ATYPICAL RETT SYNDROME


Alternate names

ATYPICAL RETT SYNDROME Is also known as atypical rtt, rett syndrome variant, autism, dementia, ataxia, and loss of purposeful hand use, rts

Description

Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

Most common symptoms of ATYPICAL RETT SYNDROME

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


More info about ATYPICAL RETT SYNDROME

SOURCES: OMIM ORPHANET

NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS


Description

NDPLHS is an autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. Additional features may include stereotypic movements, dystonia, gait abnormalities, sleep disturbances, and small hands and feet. The phenotype is reminiscent of Rett syndrome (RTT ) (summary by Yoo et al., 2017).

Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Macrocephaly
  • Gait disturbance


More info about NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS; NDPLHS

SOURCES: OMIM


Potential gene panels for GABBR2 gene

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

GABBR2 Panel

Denmark.

By Amplexa Genetics Amplexa Genetics A/S

This panel specifically test the GABBR2 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel


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