248600.8

  1. Home
  2. Subject Details

Country

United Arab Emirates

HPO Terms

Global developmental delay; Spastic paraplegia; Seizure; Scoliosis; Nystagmus; Tube feeding
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_183050.4:c.637G>T2
Download Table

Remarks

Cousins affected with global developmental delay

References

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