Term Name: | nonphotosensitive trichothiodystrophy 8 |
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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 ) |