| Term Name: | nonphotosensitive trichothiodystrophy 8 |
|---|---|
| Synonyms: | TTD8 |
| 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. |
| Ontology: | Human Disease [DOID:0061023] ( DOID:0061023 ) |