Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1
Description
VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017).
Genes related to Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1
- HAAO
Clinical Features
Top most frequent phenotypes and symptoms related to Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
- Sensorineural hearing impairment
- Cleft palate
- Atrial septal defect
- Talipes
- Bifid uvula
And another 13 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
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1 Is also known as 3-hydroxyanthranilic acidemia, congenital nad deficiency disorder 1.
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.Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 HAAO.
By Fulgent Genetics Fulgent Genetics (United States).
HAAO
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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