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.

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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


More info about FAMILIAL INFANTILE MYOCLONIC EPILEPSY

SOURCES: OMIM ORPHANET

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


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

SOURCES: OMIM




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