Version: 8.0.0
Date: Tue Jan 28 2025
nonphotosensitive trichothiodystrophy 8
DOID:0061023
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

nonphotosensitive trichothiodystrophy 8

Definition
A nonphotosensitive trichothiodystrophy that is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay that has_material_basis_in compound heterozygous mutation in the AARS1 gene on chromosome 16q22.
Synonyms
  • TTD8
Cross References
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