diphthamide deficiency syndrome 2
Disease
diphthamide deficiency syndrome 2
- Definition
A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1.
- Synonyms
- DEDSSH2
- developmental delay with short stature, dysmorphic facial features, and sparse hair 2
- Cross References
- Parent Terms
- Child Terms
- None
- Sources of Associations
Associated Genes
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