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.
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
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
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
Search interest in GABBR2
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 United States.
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 Germany.
GABBR2 Panel
Denmark.
By Amplexa Genetics Amplexa Genetics A/S
This panel specifically test the GABBR2 gene.
More info about this panel Denmark.
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 United States.
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