Term Name: | nonphotosensitive trichothiodystrophy 9 |
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Synonyms: | TTD9 |
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 homozygous mutation in the MARS1 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0061024] ( DOID:0061024 ) |