CPLX1 gene related symptoms and diseases
All the information presented here about the CPLX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CPLX1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Generalized myoclonic seizures | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Overlapping toe | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CPLX1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Long philtrum
- Delayed fine motor development
- EEG with irregular generalized spike and wave complexes
- Generalized hypotonia
- Hypertelorism
- Abnormal facial shape
- Feeding difficulties
- Midface retrusion
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CPLX1 gene
Here you will find a list of rare diseases related to the CPLX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL INFANTILE MYOCLONIC EPILEPSY
Alternate names
FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime, eim, familial infantile myoclonus epilepsy
Most common symptoms of FAMILIAL INFANTILE MYOCLONIC EPILEPSY
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Dysarthria
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
SOURCES: OMIM
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