GATAD2B gene related symptoms and diseases
All the information presented here about the GATAD2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GATAD2B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Narrow palpebral fissure | Very Common - Between 80% and 100% cases |
| Broad forehead | Very Common - Between 80% and 100% cases |
| Hypermetropia | Very Common - Between 80% and 100% cases |
| Poor speech | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GATAD2B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Astigmatism
- Broad nasal tip
- Fine hair
- Language impairment
- Blepharophimosis
- Long fingers
- Long palpebral fissure
- Self-mutilation
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GATAD2B gene
Here you will find a list of rare diseases related to the GATAD2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME
Description
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
Most common symptoms of SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
- Strabismus
More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME
Search interest in GATAD2B
Potential gene panels for GATAD2B gene
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
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.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Mental retardation, autosomal dominant type 18 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GATAD2B gene.
More info about this panel Germany.
GATAD2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GATAD2B gene.
More info about this panel United States.
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