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). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

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.

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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

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.


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Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1; Vcrl1 Recommended genes panels

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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