Cerebellar-facial-dental Syndrome

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebellar-facial-dental Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Low-set ears
  • Ventriculomegaly
  • 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.

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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.

Alternative names

Cerebellar-facial-dental Syndrome Is also known as cerebellar-facial-dental syndrome, cerebellofaciodental syndrome.

Researches and researchers

Currently, 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
BRF1.

By Fulgent Genetics Fulgent Genetics (United States).

BRF1
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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