Heart And Brain Malformation Syndrome; Hbms
Description
Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).
Clinical Features
Top most frequent phenotypes and symptoms related to Heart And Brain Malformation Syndrome; Hbms
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
- Hypertelorism
- Abnormal facial shape
- Low-set ears
- High palate
- Visual impairment
And another 38 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.
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.Heart And Brain Malformation Syndrome; Hbms Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 SMG9.
By Fulgent Genetics Fulgent Genetics (United States).
SMG9
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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