Brachycephaly, Trichomegaly, And Developmental Delay; Btdd
Description
BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).
Genes related to Brachycephaly, Trichomegaly, And Developmental Delay; Btdd
- RPS23
Clinical Features
Top most frequent phenotypes and symptoms related to Brachycephaly, Trichomegaly, And Developmental Delay; Btdd
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Cleft palate
- Low-set ears
- Anemia
- High palate
And another 18 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.
Alternative names
Brachycephaly, Trichomegaly, And Developmental Delay; Btdd Is also known as macinnes syndrome, mcins.
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.Brachycephaly, Trichomegaly, And Developmental Delay; Btdd Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 RPS23.
By Fulgent Genetics Fulgent Genetics (United States).
RPS23
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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