Term Name: | nonphotosensitive trichothiodystrophy 5 |
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Synonyms: | TTD5 |
Definition: | A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. |
Ontology: | Human Disease [DOID:0111868] ( DOID:0111868 ) |