METTL23 gene related symptoms and diseases
All the information presented here about the METTL23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to METTL23 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Seizures | Uncommon - Between 30% and 50% cases |
Global developmental delay | Uncommon - Between 30% and 50% cases |
Cleft palate | Uncommon - Between 30% and 50% cases |
Cognitive impairment | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with METTL23 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Depressed nasal bridge
- Anteverted nares
- Long philtrum
- Syndactyly
- Pes planus
- Thin vermilion border
- Bifid uvula
- Flat occiput
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to METTL23 gene
Here you will find a list of rare diseases related to the METTL23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
- Intellectual disability
- Seizures
- Global developmental delay
- Cleft palate
- Cognitive impairment
More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44
SOURCES: OMIM
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY Is also known as ar-nsid, ns-arid
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY
SOURCES: ORPHANET
Search interest in METTL23
Potential gene panels for METTL23 gene
Non-Specific Intellectual Disability Panel Panel
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 panelNon-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
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 panelMETTL23 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the METTL23 gene.
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