256800.1

  1. Home
  2. Subject Details

Country

Lebanon

HPO Terms

Self-mutilation; Motor delay; Joint hyperflexibility; Premature loss of primary teeth; Distal peripheral sensory neuropathy; Abnormality of urinary uric acid level
Back to search Result
Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_002529.3:c.2205+1G>A2
Download Table

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.