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.
Table of contents:
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.
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
Search interest in CAMK2B
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