RAB11B gene related symptoms and diseases
All the information presented here about the RAB11B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RAB11B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Cerebellar vermis hypoplasia | Very Common - Between 80% and 100% cases |
| Abnormality of the pinna | Very Common - Between 80% and 100% cases |
| Hypermetropia | Very Common - Between 80% and 100% cases |
| Unsteady gait | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RAB11B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Tapered finger
- Single transverse palmar crease
- Delayed myelination
- Hip dysplasia
- Stereotypy
- Difficulty walking
- Drooling
- Optic nerve hypoplasia
And 27 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RAB11B gene
Here you will find a list of rare diseases related to the RAB11B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
Description
NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).
Most common symptoms of NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW
SOURCES: OMIM
Search interest in RAB11B
Potential gene panels for RAB11B gene
RAB11B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RAB11B gene.
More info about this panel United States.
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