Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).
Genes related to Cerebellar-facial-dental Syndrome
Clinical FeaturesTop most frequent phenotypes and symptoms related to Cerebellar-facial-dental Syndrome
- Intellectual disability
- Global developmental delay
- Short stature
- Low-set ears
- Short neck
- Hypoplasia of the corpus callosum
- Cerebellar hypoplasia
And another 14 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.
Cerebellar-facial-dental Syndrome Is also known as cerebellar-facial-dental syndrome, cerebellofaciodental syndrome.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Cerebellar-facial-dental Syndrome Recommended genes panels
|Panel Name, Specifity and genes Tested/covered
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.ORPHANET OMIM Rare Disease Search Engine
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