CHAMP1 gene related symptoms and diseases
All the information presented here about the CHAMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CHAMP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Tented upper lip vermilion | Uncommon - Between 30% and 50% cases |
| Brain atrophy | Uncommon - Between 30% and 50% cases |
| Delayed myelination | Uncommon - Between 30% and 50% cases |
| Open mouth | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CHAMP1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Stereotypy
- Pointed chin
- Plagiocephaly
- Sleep apnea
- Recurrent upper respiratory tract infections
- Joint hypermobility
- Incoordination
- Supernumerary nipple
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CHAMP1 gene
Here you will find a list of rare diseases related to the CHAMP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Strabismus
More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40
SOURCES: OMIM
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY
Search interest in CHAMP1
Potential gene panels for CHAMP1 gene
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
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.
CHAMP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHAMP1 gene.
More info about this panel United States.
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