ClinGen Dosage Sensitivity Curation Page

DDHD1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000014.8) (NC_000014.9)

Haploinsufficiency phenotype comments:

Variants in DDHD1 have been associated with spastic paraplegia 28 (OMIM: 614603), an autosomal recessive condition.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity