CAMK2B gene related symptoms and diseases

All the information presented here about the CAMK2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CAMK2B gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Inability to walk Uncommon - Between 30% and 50% cases
Abnormality of eye movement Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CAMK2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the eye
  • EEG abnormality
  • Gastroesophageal reflux
  • Constipation
  • Absent speech
  • Hypoplasia of the corpus callosum
  • Seizures
  • Visual impairment

And 8 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CAMK2B gene

Here you will find a list of rare diseases related to the CAMK2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

SOURCES: OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET




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